P28Q (p.Pro28Gln) variant of KRT18 (Keratin, type I cytoskeletal 18)
P28Q (p.Pro28Gln) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- cosmic curated COSV66315
- ExAC rs74379840
- TOPMed rs74379840
- gnomAD rs74379840
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.33
- CADD 24.40
- PolyPhen-2 0.67
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available