NRAS p.Val14=
c.42T>C · rs1433972399 · VCV1334265
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Conditions
2
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 11.92 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,940 alleles
Overall
6.84e-05%
1/1,461,802 alleles · very rare
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
- NRAS
- Protein
- p.Val14=
- Coding
- c.42T>C
- MANE Select
- NM_002524
- dbSNP
- rs1433972399
- Type
- single nucleotide variant
- Location
- chr1:114716119 (GRCh38)
- Gene constraint
- LOEUF 0.55 · pLI 0.94 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 92.56 · 36 PDB
- Residue 14
- an α-helix; a binding site
Similar variants
- NRAS p.Val14Gly Uncertain significance ★ ⚠ same residue
- NRAS p.Gly12Ser Pathogenic ★★★ same condition
- NRAS p.Thr58Ile Pathogenic ★★★ same condition
- NRAS c.112-8A>G Likely benign ★★★ same condition
- NRAS p.Leu120= Likely benign ★★★ same condition
- NRAS p.Gly12Ala Pathogenic/Likely pathogenic ★★ same condition
- NRAS p.Gly12Asp Pathogenic/Likely pathogenic ★★ same condition
- NRAS p.Cys181Phe Uncertain significance ★★ ⚠ same condition
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/nras-p-val14 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown