G5D (p.Gly5Asp) variant of CSRP3 (P50461)
G5D (p.Gly5Asp) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- rs2133516544
- ClinGen CA379888679
- ClinVar RCV001935259
- Ensembl rs2133516544
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.99
- MetaLR 0.60
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.46
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)