F89V (p.Phe89Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
F89V (p.Phe89Val) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.29 / 1. The record also includes population frequency data and structural context.
F89V (p.Phe89Val) variant details
- p.Phe89Val
- TOPMed rs1194879659
- gnomAD rs1194879659
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.18
- CADD 16.10
- PolyPhen-2 0.06
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available