S6G (p.Ser6Gly) variant of SORL1 (Sortilin-related receptor)
S6G (p.Ser6Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- gnomAD 11-121452347-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.22
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available