S46N (p.Ser46Asn) variant of CSRP3 (P50461)
S46N (p.Ser46Asn) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12. The record also includes variant effect predictions and structural context.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- cosmic curated COSV10801
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- MetaLR 0.85
- MetaSVM 0.84
- SIFT 0.02
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12)
- UniProt: Uncertain significance
- Structural context available