A128S (p.Ala128Ser) variant of ANKRD1 (Q15327)
A128S (p.Ala128Ser) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A128S (p.Ala128Ser) variant details
- p.Ala128Ser
- rs887010560
- ClinGen CA211424319
- ClinVar RCV004138921
- Ensembl rs887010560
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.41
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available