T47I (p.Thr47Ile) variant of ANKRD1 (Q15327)
T47I (p.Thr47Ile) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- rs727502891
- ClinGen CA175253
- ClinVar RCV000150161
- ClinVar RCV001326574
- Uncertain significance
- not specified; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.19
- CADD 27.10
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)