S65C (p.Ser65Cys) variant of ALPL (P05186)
S65C (p.Ser65Cys) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S65C (p.Ser65Cys) variant details
- p.Ser65Cys
- gnomAD 1-21561109-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.90
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available