G221V (p.Gly221Val) variant of ALPL (P05186)
G221V (p.Gly221Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G221V (p.Gly221Val) variant details
- p.Gly221Val
- rs566317085
- ClinGen CA666576
- ClinVar RCV002648132
- ClinVar RCV005645432
- Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypophosphatasia; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)