P40T (p.Pro40Thr) variant of ABCC6 (O95255)
P40T (p.Pro40Thr) 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 0.60 / 1. The record also includes population frequency data and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- ExAC rs778544828
- TOPMed rs778544828
- gnomAD rs778544828
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available