S189A (p.Ser189Ala) variant of TNNT2 (Troponin T, cardiac muscle)
S189A (p.Ser189Ala) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S189A (p.Ser189Ala) variant details
- p.Ser189Ala
- rs377157235
- ClinGen CA35420183
- ClinVar RCV000541251
- ESP rs377157235
- Likely pathogenic
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 24.80
- PolyPhen-2 0.90
- SIFT 0.12
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Likely pathogenic (in CMH2)
- UniProt: Likely pathogenic (in CMH2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)