A35T (p.Ala35Thr) variant of TNNI3 (Troponin I, cardiac muscle)
A35T (p.Ala35Thr) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs1408482066
- ClinGen CA407442842
- ClinVar RCV001943658
- gnomAD rs1408482066
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.38
- MetaLR 0.71
- MetaSVM 0.43
- CADD 21.70
- PolyPhen-2 0.09
- SIFT 0.43
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available