R41H (p.Arg41His) variant of KRT14 (Keratin, type I cytoskeletal 14)
R41H (p.Arg41His) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs566001198
- ClinGen CA8562813
- ClinVar RCV003088814
- ClinVar RCV003095715
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)