N26K (p.Asn26Lys) variant of CSRP3 (P50461)
N26K (p.Asn26Lys) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- rs909246685
- ClinGen CA218634835
- ClinVar RCV003795972
- TOPMed rs909246685
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.31
- CADD 9.81
- PolyPhen-2 0.22
- SIFT 0.66
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)