R8G (p.Arg8Gly) variant of SORL1 (Sortilin-related receptor)
R8G (p.Arg8Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- gnomAD 11-121452353-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available