S15G (p.Ser15Gly) variant of PYGM (P11217)
S15G (p.Ser15Gly) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- Ensembl rs1032877990
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 26.20
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available