G4A (p.Gly4Ala) variant of TNNI3 (Troponin I, cardiac muscle)
G4A (p.Gly4Ala) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- gnomAD rs1351385449
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.32
- MetaLR 0.68
- MetaSVM -0.29
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.58
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available