G6R (p.Gly6Arg) variant of CSRP3 (P50461)
G6R (p.Gly6Arg) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs185980145
- ClinGen CA175606
- ClinVar RCV000150370
- ClinVar RCV000623694
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.42
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Hypertrophic cardiomyop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)