A104S (p.Ala104Ser) variant of PYGM (P11217)
A104S (p.Ala104Ser) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
A104S (p.Ala104Ser) variant details
- p.Ala104Ser
- Ensembl rs1032965056
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -0.68
- SIFT 1.00
- Structural context available