A20P (p.Ala20Pro) variant of SORL1 (Sortilin-related receptor)
A20P (p.Ala20Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- gnomAD 11-121452389-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.35
- MetaLR 0.54
- MetaSVM -0.41
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available