Q115R (p.Gln115Arg) variant of PYGM (P11217)
Q115R (p.Gln115Arg) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
Q115R (p.Gln115Arg) variant details
- p.Gln115Arg
- gnomAD rs879158851
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 28.90
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available