A50E (p.Ala50Glu) variant of CSRP3 (P50461)
A50E (p.Ala50Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A50E (p.Ala50Glu) variant details
- p.Ala50Glu
- rs139805841
- ClinGen CA218633654
- ClinVar RCV001203484
- ClinVar RCV001550926
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.81
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)