P40L (p.Pro40Leu) variant of ABCC6 (O95255)
P40L (p.Pro40Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- ExAC rs757143605
- gnomAD rs757143605
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.72
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available