S6N (p.Ser6Asn) variant of SORL1 (Sortilin-related receptor)
S6N (p.Ser6Asn) 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.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- gnomAD 11-121452348-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available