A26V (p.Ala26Val) variant of SORL1 (Sortilin-related receptor)
A26V (p.Ala26Val) 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 and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- TOPMed rs1860813876
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available