L82P (p.Leu82Pro) variant of ABCC6 (O95255)
L82P (p.Leu82Pro) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L82P (p.Leu82Pro) variant details
- p.Leu82Pro
- ExAC rs778282044
- gnomAD rs778282044
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.44
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available