V52I (p.Val52Ile) variant of KRT14 (Keratin, type I cytoskeletal 14)
V52I (p.Val52Ile) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- TOPMed rs1340895845
- gnomAD rs1340895845
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.23
- CADD 18.10
- PolyPhen-2 0.68
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available