M33L (p.Met33Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
M33L (p.Met33Leu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M33L (p.Met33Leu) variant details
- p.Met33Leu
- ExAC rs768771627
- TOPMed rs768771627
- gnomAD rs768771627
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available