F46I (p.Phe46Ile) variant of KRT5 (Keratin, type II cytoskeletal 5)
F46I (p.Phe46Ile) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F46I (p.Phe46Ile) variant details
- p.Phe46Ile
- rs777631293
- ClinGen CA6582914
- ClinVar RCV003717258
- ClinVar RCV005655340
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)