Q97H (p.Gln97His) variant of PYGM (P11217)
Q97H (p.Gln97His) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q97H (p.Gln97His) variant details
- p.Gln97His
- gnomAD rs1169625293
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 17.50
- PolyPhen-2 0.81
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available