N25T (p.Asn25Thr) variant of TNNI3 (Troponin I, cardiac muscle)
N25T (p.Asn25Thr) 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 0.56 / 1. The record also includes structural context.
N25T (p.Asn25Thr) variant details
- p.Asn25Thr
- rs1555864368
- ClinGen CA407443026
- ClinVar RCV000628900
- Ensembl rs1555864368
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.16
- MetaLR 0.65
- MetaSVM 0.27
- PolyPhen-2 0.26
- SIFT 0.06
- MutPred 0.26
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available