A8G (p.Ala8Gly) variant of TNNI3 (Troponin I, cardiac muscle)
A8G (p.Ala8Gly) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1FF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs770640091
- ClinGen CA407443348
- ClinVar RCV004017183
- Uncertain significance
- Dilated cardiomyopathy 1FF
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.78
- PolyPhen-2 0.03
- SIFT 0.28
- MutPred 0.07
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1FF)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available