F8L (p.Phe8Leu) variant of KRT16 (Keratin, type I cytoskeletal 16)
F8L (p.Phe8Leu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- TOPMed rs1433574976
- gnomAD rs1433574976
- NCI-TCGA Cosmic COSV1000
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available