R3Q (p.Arg3Gln) variant of PYGM (P11217)
R3Q (p.Arg3Gln) 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; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs374812974
- ClinGen CA6080395
- ClinVar RCV000726186
- ClinVar RCV001274029
- Uncertain significance
- not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)