R4Q (p.Arg4Gln) variant of SORL1 (Sortilin-related receptor)
R4Q (p.Arg4Gln) 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.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- gnomAD 11-121452342-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.29
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available