V34F (p.Val34Phe) variant of KRT16 (Keratin, type I cytoskeletal 16)
V34F (p.Val34Phe) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V34F (p.Val34Phe) variant details
- p.Val34Phe
- 1000Genomes rs530326477
- ExAC rs530326477
- TOPMed rs530326477
- gnomAD rs530326477
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.23
- CADD 7.87
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available