Q20P (p.Gln20Pro) variant of H6PD (O95479)
Q20P (p.Gln20Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- TOPMed rs1423782229
- gnomAD rs1423782229
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.77
- CADD 24.40
- PolyPhen-2 0.18
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available