Q7P (p.Gln7Pro) variant of KRT8 (Keratin, type II cytoskeletal 8)
Q7P (p.Gln7Pro) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Q7P (p.Gln7Pro) variant details
- p.Gln7Pro
- TOPMed rs1315928015
- gnomAD rs1315928015
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 24.80
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available