R30Q (p.Arg30Gln) variant of ALPL (P05186)
R30Q (p.Arg30Gln) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs753550135
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66379
- ExAC rs753550135
- Uncertain significance
- Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.43
- CADD 22.90
- PolyPhen-2 0.39
- SIFT 0.02
- ClinVar: Uncertain significance (Adult hypophosphatasia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available