R8S (p.Arg8Ser) variant of SORL1 (Sortilin-related receptor)
R8S (p.Arg8Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 11-121452355-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available