T48I (p.Thr48Ile) variant of CSRP3 (P50461)
T48I (p.Thr48Ile) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- rs1850561050
- ClinGen CA379888386
- ClinVar RCV001342366
- Ensembl rs1850561050
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.82
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.94
- CADD 25.90
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)