W140C (p.Trp140Cys) variant of CSRP3 (P50461)
W140C (p.Trp140Cys) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W140C (p.Trp140Cys) variant details
- p.Trp140Cys
- rs1565050320
- ClinGen CA379887799
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99788
- Pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)