R29H (p.Arg29His) variant of KRT5 (Keratin, type II cytoskeletal 5)
R29H (p.Arg29His) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs543574061
- ClinGen CA6582937
- NCI-TCGA Cosmic COSV5286
- ClinVar RCV002127523
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available