F54V (p.Phe54Val) variant of PYGM (P11217)
F54V (p.Phe54Val) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Glycogen storage disease, type V; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- rs148839812
- ClinGen CA6080357
- ClinVar RCV000703766
- ClinVar RCV000761777
- Uncertain significance
- not specified; Glycogen storage disease, type V; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Uncertain significance (not specified; Glycogen storage disease, type V; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00096)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)