V41I (p.Val41Ile) variant of PYGM (P11217)
V41I (p.Val41Ile) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- rs764465584
- ClinGen CA6080367
- NCI-TCGA Cosmic COSV5122
- cosmic curated COSV51220
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.38
- ESM-1b 0.90
- AlphaMissense 0.21
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.99
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)