K15E (p.Lys15Glu) variant of CSRP3 (P50461)
K15E (p.Lys15Glu) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- rs992234249
- ClinGen CA218634859
- ClinVar RCV002654713
- ClinVar RCV004072034
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.69
- CADD 26.00
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)