Y62* (p.Tyr62Ter) variant of CSRP3 (P50461)
Y62* (p.Tyr62Ter) in CSRP3 (P50461) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y62* (p.Tyr62Ter) variant details
- p.Tyr62Ter
- rs2494223496
- ClinGen CA379888301
- ClinVar RCV003795538
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)