D30Y (p.Asp30Tyr) variant of ANKRD1 (Q15327)
D30Y (p.Asp30Tyr) 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 0.23 / 1. The record also includes population frequency data and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- rs1589510859
- ClinGen CA377553981
- ClinVar RCV002376061
- gnomAD rs1589510859
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available