D42V (p.Asp42Val) variant of SOS1 (Son of sevenless homolog 1)
D42V (p.Asp42Val) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D42V (p.Asp42Val) variant details
- p.Asp42Val
- gnomAD rs1329027771
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.64
- CADD 24.30
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available