P79A (p.Pro79Ala) variant of SOS1 (Son of sevenless homolog 1)
P79A (p.Pro79Ala) in SOS1 (Son of sevenless homolog 1) is a missense change. 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.
P79A (p.Pro79Ala) variant details
- p.Pro79Ala
- TOPMed rs1671301191
- gnomAD rs1671301191
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.69
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available