S54L (p.Ser54Leu) variant of CSRP3 (P50461)
S54L (p.Ser54Leu) 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; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S54L (p.Ser54Leu) variant details
- p.Ser54Leu
- rs759455306
- ClinGen CA5916634
- ClinVar RCV002401040
- ClinVar RCV005227731
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.74
- CADD 22.10
- PolyPhen-2 0.23
- SIFT 0.15
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)