G96C (p.Gly96Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G96C (p.Gly96Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G96C (p.Gly96Cys) variant details
- p.Gly96Cys
- ExAC rs753373623
- TOPMed rs753373623
- gnomAD rs753373623
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.43
- CADD 22.00
- PolyPhen-2 0.53
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available