R4L (p.Arg4Leu) variant of SORL1 (Sortilin-related receptor)
R4L (p.Arg4Leu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 11-121452342-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available