N33S (p.Asn33Ser) variant of PYGM (P11217)
N33S (p.Asn33Ser) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- rs886048463
- ClinGen CA10638975
- ClinVar RCV000290610
- TOPMed rs886048463
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 21.00
- PolyPhen-2 0.25
- SIFT 0.65
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)