P13S (p.Pro13Ser) variant of SORL1 (Sortilin-related receptor)
P13S (p.Pro13Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- gnomAD 11-121452368-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available