K97T (p.Lys97Thr) variant of G6PD (P11413)
K97T (p.Lys97Thr) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K97T (p.Lys97Thr) variant details
- p.Lys97Thr
- ExAC rs782315044
- gnomAD rs782315044
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.43
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 0.97
- CADD 16.30
- PolyPhen-2 0.09
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available