A130V (p.Ala130Val) variant of PYGM (P11217)
A130V (p.Ala130Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- rs200430286
- ClinGen CA6080273
- ClinVar RCV000994653
- ClinVar RCV001103122
- Uncertain significance
- Glycogen storage disease, type V; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)