L89P (p.Leu89Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
L89P (p.Leu89Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L89P (p.Leu89Pro) variant details
- p.Leu89Pro
- TOPMed rs1451011108
- gnomAD rs1451011108
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.16
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available