MYB p.Pro447Arg
c.1340C>G · VCV3400316
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.072 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.7 | GERP 1.3, phastCons 1 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 22 kb · p 0.12 · regional, not allelic |
| Overall | ||
| CADD | 21.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/60,026 alleles
Overall
6.2e-05%
1/1,614,014 alleles · very rare
exomes 1/1,461,712 · genomes 0/152,302 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MYB
- Protein
- p.Pro447Arg
- Coding
- c.1340C>G
- MANE Select
- NM_001130173
- Type
- single nucleotide variant
- Location
- chr6:135197097 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 59.16
- Residue 447
- the 'negative regulatory domain' region
Similar variants
- MYB p.Pro447Thr Uncertain significance ★ same residue
- MYB p.Thr589= Benign/Likely benign ★★ same type
- MYB p.Ala278Thr Uncertain significance ★ ⚠ same type
- MYB p.Ala470Ser Uncertain significance ★ same type
- MYB p.Ala491Asp Uncertain significance ★ same type
- MYB p.Ala719Glu Uncertain significance ★ ⚠ same type
- MYB p.Arg337Gly Uncertain significance ★ ⚠ same type
- MYB p.Arg484Trp Uncertain significance ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/myb-p-pro447arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown