Q7P (p.Gln7Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
Q7P (p.Gln7Pro) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q7P (p.Gln7Pro) variant details
- p.Gln7Pro
- gnomAD rs1235530318
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.54
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available