L23M (p.Leu23Met) variant of KRT13 (Keratin, type I cytoskeletal 13)
L23M (p.Leu23Met) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L23M (p.Leu23Met) variant details
- p.Leu23Met
- ExAC rs778165896
- TOPMed rs778165896
- gnomAD rs778165896
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.27
- CADD 23.60
- PolyPhen-2 0.80
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available