M58V (p.Met58Val) variant of SOS1 (Son of sevenless homolog 1)
M58V (p.Met58Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M58V (p.Met58Val) variant details
- p.Met58Val
- rs2148140531
- ClinGen CA346374180
- cosmic curated COSV67675
- ClinVar RCV001911324
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.18
- MetaLR 0.50
- MetaSVM -0.12
- PolyPhen-2 0.79
- SIFT 0.35
- EVE 0.45
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available