A62V (p.Ala62Val) variant of SOS2 (Son of sevenless homolog 2)
A62V (p.Ala62Val) 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; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs1886594687
- ClinGen CA389651075
- ClinVar RCV001240821
- ClinVar RCV004994363
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- MetaLR 0.57
- MetaSVM -0.11
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)