L132Q (p.Leu132Gln) variant of KRT13 (Keratin, type I cytoskeletal 13)
L132Q (p.Leu132Gln) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L132Q (p.Leu132Gln) variant details
- p.Leu132Gln
- ExAC rs755706974
- gnomAD rs755706974
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.97
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available