M61L (p.Met61Leu) variant of SOS2 (Son of sevenless homolog 2)
M61L (p.Met61Leu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M61L (p.Met61Leu) variant details
- p.Met61Leu
- rs774761716
- ClinGen CA389651103
- ClinVar RCV002410320
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.86
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available