A35D (p.Ala35Asp) variant of TNNI3 (Troponin I, cardiac muscle)
A35D (p.Ala35Asp) 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 2A; Cardiomyopathy, familial restrictive, 1; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- rs1190447904
- ClinGen CA407442831
- ClinVar RCV001133669
- ClinVar RCV001133670
- Uncertain significance
- Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.48
- MetaLR 0.70
- MetaSVM -0.03
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)