D30N (p.Asp30Asn) variant of TNNT2 (Troponin T, cardiac muscle)
D30N (p.Asp30Asn) in TNNT2 (Troponin T, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- TOPMed rs1417651225
- gnomAD rs1417651225
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)