L25F (p.Leu25Phe) variant of KRT6B (Keratin, type II cytoskeletal 6B)
L25F (p.Leu25Phe) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.19 / 1. The record also includes population frequency data and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- ExAC rs759087767
- TOPMed rs759087767
- gnomAD rs759087767
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.19
- CADD 7.54
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available