T48K (p.Thr48Lys) variant of CSRP3 (P50461)
T48K (p.Thr48Lys) 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 0.83 / 1. The record also includes published literature and structural context.
T48K (p.Thr48Lys) variant details
- p.Thr48Lys
- rs1850561050
- ClinGen CA379888388
- ClinVar RCV001976617
- Ensembl rs1850561050
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 0.98
- SIFT 0.05
- EVE 0.57
- 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)