P102L (p.Pro102Leu) variant of SOS2 (Son of sevenless homolog 2)
P102L (p.Pro102Leu) 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 0.62 / 1. The record also includes population frequency data and structural context.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- rs2503193225
- ClinGen CA389649953
- ClinVar RCV002444186
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.59
- MetaLR 0.56
- MetaSVM 0.07
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available