R71G (p.Arg71Gly) variant of ALPL (P05186)
R71G (p.Arg71Gly) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R71G (p.Arg71Gly) variant details
- p.Arg71Gly
- rs121918001
- ClinGen CA338877926
- ClinVar RCV003562213
- ClinVar RCV005645502
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided)
- EBI: Pathogenic (in HPPC)
- UniProt: Pathogenic (in HPPC)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)