A23S (p.Ala23Ser) variant of ABCC6 (O95255)
A23S (p.Ala23Ser) 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 0.04 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- ESP rs371804833
- ExAC rs371804833
- TOPMed rs371804833
- gnomAD rs371804833
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.037
- REVEL 0.01
- CADD 0.06
- PolyPhen-2 0.01
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available