G66V (p.Gly66Val) variant of PYGM (P11217)
G66V (p.Gly66Val) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G66V (p.Gly66Val) variant details
- p.Gly66Val
- ExAC rs763289422
- gnomAD rs763289422
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 23.90
- PolyPhen-2 0.56
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available