S46G (p.Ser46Gly) variant of CSRP3 (P50461)
S46G (p.Ser46Gly) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S46G (p.Ser46Gly) variant details
- p.Ser46Gly
- rs137852765
- ClinGen CA379888402
- ClinVar RCV003791227
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.94
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)