E27K (p.Glu27Lys) variant of PYGM (P11217)
E27K (p.Glu27Lys) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD rs1434873172
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.43
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available