R136C (p.Arg136Cys) variant of ALPL (P05186)
R136C (p.Arg136Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphataemia or rickets; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R136C (p.Arg136Cys) variant details
- p.Arg136Cys
- rs747762186
- ClinGen CA666477
- ClinVar RCV001238820
- ClinVar RCV001253680
- Pathogenic/Likely pathogenic
- not provided; Hypophosphataemia or rickets; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.83
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.16
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphataemia or rickets; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)