L78Q (p.Leu78Gln) variant of KRT8 (Keratin, type II cytoskeletal 8)
L78Q (p.Leu78Gln) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L78Q (p.Leu78Gln) variant details
- p.Leu78Gln
- gnomAD rs1941468677
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 24.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available