N18T (p.Asn18Thr) variant of TNNC1 (P63316)
N18T (p.Asn18Thr) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
N18T (p.Asn18Thr) variant details
- p.Asn18Thr
- rs1706343846
- ClinGen CA353169851
- ClinVar RCV002347247
- ClinVar RCV006559050
- Uncertain significance
- Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.09
- MetaLR 0.61
- MetaSVM 0.01
- PolyPhen-2 0.09
- SIFT 0.45
- EVE 0.08
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)