R34Q (p.Arg34Gln) variant of KRT2 (P35908)
R34Q (p.Arg34Gln) in KRT2 (P35908) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- 1000Genomes rs375327233
- ExAC rs375327233
- TOPMed rs375327233
- gnomAD rs375327233
- Uncertain significance
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.66
- SIFT 0.03
- ClinVar: Uncertain significance (Ichthyosis bullosa of Siemens)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available