P52R (p.Pro52Arg) variant of TNNC1 (P63316)
P52R (p.Pro52Arg) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs730881065
- ClinGen CA297343
- ClinVar RCV000586385
- ClinVar RCV000647106
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.96
- MetaLR 0.45
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)