D127Y (p.Asp127Tyr) variant of TNNI3 (Troponin I, cardiac muscle)
D127Y (p.Asp127Tyr) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiomyopathy, familial restrictive, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
D127Y (p.Asp127Tyr) variant details
- p.Asp127Tyr
- rs1114167340
- ClinGen CA407440799
- ClinVar RCV000490996
- Ensembl rs1114167340
- Likely pathogenic
- Cardiomyopathy, familial restrictive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.65
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Likely pathogenic (Cardiomyopathy, familial restrictive, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available