H79R (p.His79Arg) variant of ALPL (P05186)
H79R (p.His79Arg) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H79R (p.His79Arg) variant details
- p.His79Arg
- gnomAD 1-21561151-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available