Q115E (p.Gln115Glu) variant of PYGM (P11217)
Q115E (p.Gln115Glu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q115E (p.Gln115Glu) variant details
- p.Gln115Glu
- gnomAD rs1310345038
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 21.30
- PolyPhen-2 0.19
- SIFT 0.67
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available