V65L (p.Val65Leu) variant of PYGM (P11217)
V65L (p.Val65Leu) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs149658961
- 1000Genomes rs149658961
- ESP rs149658961
- ExAC rs149658961
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.31
- 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 6.7e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)