P40A (p.Pro40Ala) variant of ABCC6 (O95255)
P40A (p.Pro40Ala) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- ExAC rs778544828
- TOPMed rs778544828
- gnomAD rs778544828
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.71
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available