P49Q (p.Pro49Gln) variant of PYGM (P11217)
P49Q (p.Pro49Gln) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P49Q (p.Pro49Gln) variant details
- p.Pro49Gln
- rs368649966
- ClinGen CA6080359
- ClinVar RCV003130372
- ESP rs368649966
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.21
- 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 0.00024)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)