A65P (p.Ala65Pro) variant of TNNT2 (Troponin T, cardiac muscle)
A65P (p.Ala65Pro) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- rs1659919080
- ClinGen CA344206967
- ClinVar RCV001187958
- Ensembl rs1659919080
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.09
- MetaLR 0.86
- MetaSVM 0.62
- PolyPhen-2 0.00
- SIFT 0.19
- EVE 0.11
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)