K40Q (p.Lys40Gln) variant of KRT10 (Keratin, type I cytoskeletal 10)
K40Q (p.Lys40Gln) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- ExAC rs747571094
- gnomAD rs747571094
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- CADD 21.10
- PolyPhen-2 0.08
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.0007)