A78S (p.Ala78Ser) variant of ABCC6 (O95255)
A78S (p.Ala78Ser) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PXE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- 1000Genomes rs2856597
- gnomAD rs2856597
- Uncertain significance
- in PXE
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- REVEL 0.06
- CADD 7.38
- EBI: Variant of uncertain significance (in PXE)
- UniProt: Uncertain significance (in PXE)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available