K59E (p.Lys59Glu) variant of CSRP3 (P50461)
K59E (p.Lys59Glu) 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; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy. 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.
K59E (p.Lys59Glu) variant details
- p.Lys59Glu
- rs769003538
- ClinGen CA5916630
- ClinVar RCV000525402
- ClinVar RCV002402417
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.87
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00053)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)