R30H (p.Arg30His) variant of KRT14 (Keratin, type I cytoskeletal 14)
R30H (p.Arg30His) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- ExAC rs756137651
- TOPMed rs756137651
- gnomAD rs756137651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available