Q28K (p.Gln28Lys) variant of KRT1 (Keratin, type II cytoskeletal 1)
Q28K (p.Gln28Lys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q28K (p.Gln28Lys) variant details
- p.Gln28Lys
- ESP rs146155769
- ExAC rs146155769
- TOPMed rs146155769
- gnomAD rs146155769
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.14
- AlphaMissense 0.46
- MetaLR 0.42
- MetaSVM -0.34
- CADD 10.20
- PolyPhen-2 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available