S29R (p.Ser29Arg) variant of CSRP3 (P50461)
S29R (p.Ser29Arg) 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 structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- ExAC rs765951170
- TOPMed rs765951170
- gnomAD rs765951170
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12)
- UniProt: Uncertain significance
- Structural context available