H63L (p.His63Leu) variant of PYGM (P11217)
H63L (p.His63Leu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
H63L (p.His63Leu) variant details
- p.His63Leu
- Ensembl rs1592416979
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- ESM-1b 1.00
- AlphaMissense 0.28
- Structural context available