K71R (p.Lys71Arg) variant of H6PD (O95479)
K71R (p.Lys71Arg) in H6PD (O95479) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K71R (p.Lys71Arg) variant details
- p.Lys71Arg
- rs201786227
- TOPMed rs201786227
- gnomAD rs201786227
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.99
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available