S6R (p.Ser6Arg) variant of SORL1 (Sortilin-related receptor)
S6R (p.Ser6Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- gnomAD 11-121452349-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available