A38V (p.Ala38Val) variant of TNNT2 (Troponin T, cardiac muscle)
A38V (p.Ala38Val) 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 not specified; not provided; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs200754249
- UniProt VAR 067259
- 1000Genomes rs200754249
- ESP rs200754249
- Conflicting interpretations
- not specified; not provided; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.0971
- CADD 5.58
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Dilated cardiomyopathy 1D)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. (PMID 21846512)
- Cited in: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular… (PMID 10525521)