A2S (p.Ala2Ser) variant of SORL1 (Sortilin-related receptor)
A2S (p.Ala2Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 11-121452335-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.29
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available