P87T (p.Pro87Thr) variant of TNNT2 (Troponin T, cardiac muscle)
P87T (p.Pro87Thr) 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 provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature.
P87T (p.Pro87Thr) variant details
- p.Pro87Thr
- rs730881096
- ClinGen CA004147
- ClinVar RCV000159271
- ClinVar RCV002515087
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.72
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)