F52Y (p.Phe52Tyr) variant of KRT10 (Keratin, type I cytoskeletal 10)
F52Y (p.Phe52Tyr) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, 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 0.25 / 1. The record also includes population frequency data.
F52Y (p.Phe52Tyr) variant details
- p.Phe52Tyr
- TOPMed rs997536761
- gnomAD rs997536761
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.22
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)