W31C (p.Trp31Cys) variant of SORL1 (Sortilin-related receptor)
W31C (p.Trp31Cys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
W31C (p.Trp31Cys) variant details
- p.Trp31Cys
- gnomAD 11-121452424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- MetaLR 0.49
- MetaSVM -0.44
- CADD 23.80
- PolyPhen-2 0.16
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available