MPL p.Pro195Arg
c.584_585delinsGG · rs2153916807 · VCV1049780
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.80 | unconstrained · MANE · 8,947 bp · p 8.9e-06 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- MPL
- Protein
- p.Pro195Arg
- Coding
- c.584_585delinsGG
- MANE Select
- NM_005373
- dbSNP
- rs2153916807
- Type
- Indel
- Location
- chr1:43339463 (GRCh38)
- Gene constraint
- LOEUF 1.022 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.44 · 1 PDB
- Residue 195
- the fibronectin type-iii 1 domain
Similar variants
- MPL p.Pro195Ser Uncertain significance ★ ⚠ same residue
- MPL p.Pro195= Likely benign ★ same residue
- MPL c.1566-7_1572delinsGAGAAGCAGA Likely pathogenic ★ same type
- MPL p.Arg170_Pro176delinsHisTrpSer Pathogenic ★ same type
- MPL p.Arg525fs Likely pathogenic ★ same type
- MPL p.Gln122fs Likely pathogenic ★ same type
- MPL p.Gly288fs Likely pathogenic ★ same type
- MPL p.Trp331_Glu332delinsTer Likely pathogenic ★ 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/mpl-p-pro195arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown