N45S (p.Asn45Ser) variant of PYGM (P11217)
N45S (p.Asn45Ser) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- rs769985937
- ClinGen CA6080364
- ClinVar RCV002638099
- ExAC rs769985937
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.44
- ESM-1b 0.65
- AlphaMissense 0.35
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.40
- 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 3.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)