T16S (p.Thr16Ser) variant of CSRP3 (P50461)
T16S (p.Thr16Ser) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- rs1565053147
- ClinGen CA379888613
- ClinVar RCV000710022
- Ensembl rs1565053147
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.26
- MetaLR 0.65
- MetaSVM 0.06
- PolyPhen-2 0.04
- SIFT 0.61
- MutPred 0.49
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)