G21S (p.Gly21Ser) variant of PYGM (P11217)
G21S (p.Gly21Ser) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs145881639
- ClinGen CA6080380
- cosmic curated COSV51216
- ClinVar RCV000726775
- Uncertain significance
- not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.58
- ESM-1b 0.44
- AlphaMissense 0.14
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)