Y62C (p.Tyr62Cys) variant of CSRP3 (P50461)
Y62C (p.Tyr62Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- rs1850559519
- ClinGen CA379888304
- ClinVar RCV001808867
- TOPMed rs1850559519
- Uncertain significance
- Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)