M99L (p.Met99Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
M99L (p.Met99Leu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
M99L (p.Met99Leu) variant details
- p.Met99Leu
- ExAC rs765295249
- TOPMed rs765295249
- gnomAD rs765295249
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.13
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available