L68P (p.Leu68Pro) variant of ABCC6 (O95255)
L68P (p.Leu68Pro) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- Ensembl rs1477745192
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.64
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available