D32H (p.Asp32His) variant of TNNT2 (Troponin T, cardiac muscle)
D32H (p.Asp32His) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1D; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
D32H (p.Asp32His) variant details
- p.Asp32His
- rs572078239
- ClinGen CA032911
- ClinVar RCV003156630
- 1000Genomes rs572078239
- Conflicting interpretations
- Dilated cardiomyopathy 1D; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1D; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)