L110V (p.Leu110Val) variant of KRT14 (Keratin, type I cytoskeletal 14)
L110V (p.Leu110Val) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.56 / 1. The record also includes population frequency data and structural context.
L110V (p.Leu110Val) variant details
- p.Leu110Val
- rs748396111
- ClinGen CA8562740
- ClinVar RCV003870930
- ExAC rs748396111
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.46
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available