A20V (p.Ala20Val) variant of SORL1 (Sortilin-related receptor)
A20V (p.Ala20Val) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 11-121452390-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.60
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available