A2V (p.Ala2Val) variant of SORL1 (Sortilin-related receptor)
A2V (p.Ala2Val) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 11-121452336-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available