R30G (p.Arg30Gly) variant of ALPL (P05186)
R30G (p.Arg30Gly) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- rs1057516334
- ClinGen CA338877486
- ClinVar RCV001772511
- ClinVar RCV005645294
- Uncertain significance
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.34
- MetaLR 0.80
- MetaSVM 0.46
- PolyPhen-2 0.79
- SIFT 0.08
- MutPred 0.47
- ClinVar: Uncertain significance (not provided; Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)