N26D (p.Asn26Asp) variant of CSRP3 (P50461)
N26D (p.Asn26Asp) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Hypertrophic cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N26D (p.Asn26Asp) variant details
- p.Asn26Asp
- rs1408098337
- ClinGen CA379888546
- ClinVar RCV001293157
- ClinVar RCV001879973
- Conflicting interpretations
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Hypertrophic cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.35
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Hyper)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)