T53A (p.Thr53Ala) variant of TNNC1 (P63316)
T53A (p.Thr53Ala) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- rs1553651742
- ClinGen CA353168547
- ClinVar RCV000647107
- ClinVar RCV000825474
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.42
- MetaLR 0.52
- MetaSVM -0.10
- PolyPhen-2 0.04
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy 13; Dilated cardiomyo)
- 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)