K97R (p.Lys97Arg) variant of G6PD (P11413)
K97R (p.Lys97Arg) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K97R (p.Lys97Arg) variant details
- p.Lys97Arg
- ExAC rs782315044
- gnomAD rs782315044
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 0.97
- CADD 14.60
- PolyPhen-2 0.09
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available