L22V (p.Leu22Val) variant of SORL1 (Sortilin-related receptor)
L22V (p.Leu22Val) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- TOPMed rs866322118
- gnomAD rs866322118
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available