R17H (p.Arg17His) variant of PYGM (P11217)
R17H (p.Arg17His) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs148159796
- ClinGen CA6080384
- cosmic curated COSV10940
- ClinVar RCV003063050
- Uncertain significance
- not provided; Inborn genetic diseases; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Glycogen storage disease,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)