L17P (p.Leu17Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
L17P (p.Leu17Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- TOPMed rs1907062665
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.14
- CADD 8.58
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available