G63C (p.Gly63Cys) variant of ALPL (P05186)
G63C (p.Gly63Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G63C (p.Gly63Cys) variant details
- p.Gly63Cys
- rs2545291979
- ClinGen CA338877845
- ClinVar RCV003690247
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Population evidence available
- Structural context available