D62N (p.Asp62Asn) variant of TNNC1 (P63316)
D62N (p.Asp62Asn) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs1040079072
- ClinGen CA74776012
- ClinVar RCV000491866
- ClinVar RCV001039174
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.30
- MetaLR 0.30
- MetaSVM -0.57
- PolyPhen-2 1.00
- SIFT 1.00
- EVE 0.11
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)