K130Q (p.Lys130Gln) variant of KRT8 (Keratin, type II cytoskeletal 8)
K130Q (p.Lys130Gln) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
K130Q (p.Lys130Gln) variant details
- p.Lys130Gln
- gnomAD rs1200074492
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 23.20
- PolyPhen-2 0.63
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)