S10A (p.Ser10Ala) variant of SORL1 (Sortilin-related receptor)
S10A (p.Ser10Ala) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- gnomAD 11-121452359-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.30
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available