I114F (p.Ile114Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
I114F (p.Ile114Phe) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I114F (p.Ile114Phe) variant details
- p.Ile114Phe
- rs1941562379
- ClinGen CA384976171
- ClinVar RCV002777751
- Ensembl rs1941562379
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.24
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)