V19A (p.Val19Ala) variant of SORL1 (Sortilin-related receptor)
V19A (p.Val19Ala) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD 11-121452387-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.35
- MetaLR 0.52
- MetaSVM -0.24
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available