Y33H (p.Tyr33His) variant of ANKRD1 (Q15327)
Y33H (p.Tyr33His) 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; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
Y33H (p.Tyr33His) variant details
- p.Tyr33His
- rs1847421976
- ClinGen CA377553943
- ClinVar RCV001047453
- ClinVar RCV005660021
- Uncertain significance
- Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.91
- MetaLR 0.44
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.49
- ClinVar: Uncertain significance (Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)