L115M (p.Leu115Met) variant of KRT13 (Keratin, type I cytoskeletal 13)
L115M (p.Leu115Met) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L115M (p.Leu115Met) variant details
- p.Leu115Met
- TOPMed rs772897754
- gnomAD rs772897754
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.79
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available