G136A (p.Gly136Ala) variant of PYGM (P11217)
G136A (p.Gly136Ala) in PYGM (P11217) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G136A (p.Gly136Ala) variant details
- p.Gly136Ala
- NCI-TCGA Cosmic COSV5122
- cosmic curated COSV51221
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available