S6C (p.Ser6Cys) variant of SORL1 (Sortilin-related receptor)
S6C (p.Ser6Cys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD 11-121452347-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- CADD 26.70
- PolyPhen-2 0.54
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available