R6H (p.Arg6His) variant of KRT14 (Keratin, type I cytoskeletal 14)
R6H (p.Arg6His) 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 0.49 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs760882737
- ClinGen CA8562840
- ClinVar RCV003553203
- ExAC rs760882737
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.37
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available