R4G (p.Arg4Gly) variant of SORL1 (Sortilin-related receptor)
R4G (p.Arg4Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- TOPMed rs1179499363
- gnomAD rs1179499363
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available