Y91H (p.Tyr91His) variant of PYGM (P11217)
Y91H (p.Tyr91His) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
Y91H (p.Tyr91His) variant details
- p.Tyr91His
- rs2496671677
- ClinGen CA381111442
- ClinVar RCV003456777
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available