D45N (p.Asp45Asn) variant of CSRP3 (P50461)
D45N (p.Asp45Asn) 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 0.75 / 1. The record also includes published literature and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs894467251
- ClinGen CA218633669
- cosmic curated COSV10956
- ClinVar RCV003054638
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.96
- MetaLR 0.81
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)