A114P (p.Ala114Pro) variant of TNNT2 (Troponin T, cardiac muscle)
A114P (p.Ala114Pro) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature.
A114P (p.Ala114Pro) variant details
- p.Ala114Pro
- rs1553282527
- ClinGen CA344206435
- ClinVar RCV000646056
- 1000Genomes rs1553282527
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.06
- MetaLR 0.70
- MetaSVM 0.01
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.06
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Variant of uncertain significance (in CMH2)
- UniProt: Uncertain significance (in CMH2)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)