V95A (p.Val95Ala) variant of TNNT2 (Troponin T, cardiac muscle)
V95A (p.Val95Ala) 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 Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
V95A (p.Val95Ala) variant details
- p.Val95Ala
- rs2102264743
- ClinGen CA090143
- ClinVar RCV001920084
- Ensembl rs2102264743
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.91
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)