V65E (p.Val65Glu) variant of PYGM (P11217)
V65E (p.Val65Glu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V65E (p.Val65Glu) variant details
- p.Val65Glu
- gnomAD rs1208434944
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.30
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available