A20S (p.Ala20Ser) variant of TNNT2 (Troponin T, cardiac muscle)
A20S (p.Ala20Ser) 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 0.25 / 1. The record also includes population frequency data and published literature.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- rs1211720474
- ClinGen CA344208067
- ClinVar RCV003805893
- gnomAD rs1211720474
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 15.00
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)