V22L (p.Val22Leu) variant of PYGM (P11217)
V22L (p.Val22Leu) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- ESP rs140731551
- TOPMed rs140731551
- gnomAD rs140731551
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 19.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available