R34S (p.Arg34Ser) variant of SORL1 (Sortilin-related receptor)
R34S (p.Arg34Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- gnomAD 11-121452433-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.29
- MetaLR 0.39
- MetaSVM -0.51
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available