R71A (p.Arg71Ala) variant of ALPL (P05186)
R71A (p.Arg71Ala) in ALPL (P05186) is a protein-truncating 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.
R71A (p.Arg71Ala) variant details
- p.Arg71Ala
- gnomAD 1-21561123-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available