A33G (p.Ala33Gly) variant of ALPL (P05186)
A33G (p.Ala33Gly) 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 0.74 / 1. The record also includes population frequency data and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- rs121918005
- ClinGen CA666394
- ClinVar RCV003665437
- ExAC rs121918005
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- CADD 22.70
- PolyPhen-2 0.76
- SIFT 0.11
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available