G63D (p.Gly63Asp) variant of ALPL (P05186)
G63D (p.Gly63Asp) in ALPL (P05186) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HOPS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- gnomAD rs1490668038
- Likely pathogenic
- in HOPS
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Population evidence available
- Structural context available