K200N (p.Lys200Asn) variant of TNNT2 (Troponin T, cardiac muscle)
K200N (p.Lys200Asn) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data.
K200N (p.Lys200Asn) variant details
- p.Lys200Asn
- gnomAD rs1376311899
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- CADD 37.00
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)