P79R (p.Pro79Arg) variant of SOS1 (Son of sevenless homolog 1)
P79R (p.Pro79Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P79R (p.Pro79Arg) variant details
- p.Pro79Arg
- gnomAD rs1217237678
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.72
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available