V30V (p.Val30Val) variant of SORL1 (Sortilin-related receptor)
V30V (p.Val30Val) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V30V (p.Val30Val) variant details
- p.Val30Val
- rs559316306
- gnomAD 11-121452421-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 14.30
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Literature evidence available