R34Q (p.Arg34Gln) variant of PYGM (P11217)
R34Q (p.Arg34Gln) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs753484236
- ClinGen CA6080371
- ClinVar RCV003130368
- ExAC rs753484236
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 24.80
- PolyPhen-2 0.72
- SIFT 0.07
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)