K103Q (p.Lys103Gln) variant of TNNT2 (Troponin T, cardiac muscle)
K103Q (p.Lys103Gln) 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 Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature.
K103Q (p.Lys103Gln) variant details
- p.Lys103Gln
- rs730881122
- ClinGen CA004281
- ClinVar RCV000768492
- ClinVar RCV006555515
- Conflicting interpretations
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- 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)