C28R (p.Cys28Arg) variant of SORL1 (Sortilin-related receptor)
C28R (p.Cys28Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C28R (p.Cys28Arg) variant details
- p.Cys28Arg
- gnomAD 11-121452413-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.24
- MetaLR 0.41
- MetaSVM -0.64
- CADD 9.26
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available