F67L (p.Phe67Leu) variant of KRT10 (Keratin, type I cytoskeletal 10)
F67L (p.Phe67Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- rs1277986520
- ClinGen CA399396301
- ClinVar RCV002726586
- TOPMed rs1277986520
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.15
- CADD 8.26
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)