S10T (p.Ser10Thr) variant of SORL1 (Sortilin-related receptor)
S10T (p.Ser10Thr) 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.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- gnomAD 11-121452359-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.32
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available