G93V (p.Gly93Val) variant of PYGM (P11217)
G93V (p.Gly93Val) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G93V (p.Gly93Val) variant details
- p.Gly93Val
- rs1085307918
- ClinGen CA381111386
- ClinVar RCV000489939
- Ensembl rs1085307918
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available