C28C (p.Cys28Cys) variant of SORL1 (Sortilin-related receptor)
C28C (p.Cys28Cys) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C28C (p.Cys28Cys) variant details
- p.Cys28Cys
- rs200230538
- gnomAD 11-121452415-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available