L27P (p.Leu27Pro) variant of SORL1 (Sortilin-related receptor)
L27P (p.Leu27Pro) 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.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 11-121452411-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- MetaLR 0.52
- MetaSVM -0.44
- CADD 21.80
- PolyPhen-2 0.09
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available