K9T (p.Lys9Thr) variant of CSRP3 (P50461)
K9T (p.Lys9Thr) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K9T (p.Lys9Thr) variant details
- p.Lys9Thr
- rs1352827887
- ClinGen CA379888660
- ClinVar RCV000554657
- ClinVar RCV003327422
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 23.40
- PolyPhen-2 0.46
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-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)