R61H (p.Arg61His) variant of PYGM (P11217)
R61H (p.Arg61His) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- rs145514333
- ClinGen CA238832
- cosmic curated COSV51220
- ClinVar RCV000173380
- Conflicting interpretations
- not specified; not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Glycogen storage disease, type V)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.021)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)