S6I (p.Ser6Ile) variant of SORL1 (Sortilin-related receptor)
S6I (p.Ser6Ile) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- gnomAD 11-121452348-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available