L100P (p.Leu100Pro) variant of KRT13 (Keratin, type I cytoskeletal 13)
L100P (p.Leu100Pro) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L100P (p.Leu100Pro) variant details
- p.Leu100Pro
- gnomAD rs1905021716
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.78
- CADD 26.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available