E29K (p.Glu29Lys) variant of SORL1 (Sortilin-related receptor)
E29K (p.Glu29Lys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- gnomAD 11-121452416-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.12
- MetaLR 0.45
- MetaSVM -0.56
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available