V70L (p.Val70Leu) variant of SOS2 (Son of sevenless homolog 2)
V70L (p.Val70Leu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- gnomAD rs1179049396
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.66
- MetaLR 0.73
- MetaSVM 0.59
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available