I91T (p.Ile91Thr) variant of ANKRD1 (Q15327)
I91T (p.Ile91Thr) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I91T (p.Ile91Thr) variant details
- p.Ile91Thr
- rs1847406250
- ClinGen CA377552794
- ClinVar RCV002914192
- Ensembl rs1847406250
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)