H63Q (p.His63Gln) variant of PYGM (P11217)
H63Q (p.His63Gln) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H63Q (p.His63Gln) variant details
- p.His63Gln
- Ensembl rs2058421074
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available