A50S (p.Ala50Ser) variant of ANKRD1 (Q15327)
A50S (p.Ala50Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- rs28730751
- ClinGen CA377553637
- ClinVar RCV004519538
- 1000Genomes rs28730751
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.72
- MutPred 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available