L22P (p.Leu22Pro) variant of SORL1 (Sortilin-related receptor)
L22P (p.Leu22Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 11-121452396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.58
- MetaLR 0.71
- MetaSVM 0.16
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available