Q110R (p.Gln110Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
Q110R (p.Gln110Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q110R (p.Gln110Arg) variant details
- p.Gln110Arg
- 1000Genomes rs533929594
- ExAC rs533929594
- gnomAD rs533929594
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.48
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available