L119M (p.Leu119Met) variant of KRT13 (Keratin, type I cytoskeletal 13)
L119M (p.Leu119Met) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L119M (p.Leu119Met) variant details
- p.Leu119Met
- gnomAD rs1321451899
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.64
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available