G72C (p.Gly72Cys) variant of KRT13 (Keratin, type I cytoskeletal 13)
G72C (p.Gly72Cys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G72C (p.Gly72Cys) variant details
- p.Gly72Cys
- ExAC rs774457214
- TOPMed rs774457214
- gnomAD rs774457214
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.23
- CADD 13.80
- PolyPhen-2 0.39
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available