T127I (p.Thr127Ile) variant of ABCC9 (O60706)
T127I (p.Thr127Ile) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T127I (p.Thr127Ile) variant details
- p.Thr127Ile
- TOPMed rs1949028319
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 28.50
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available