H52Y (p.His52Tyr) variant of CSRP3 (P50461)
H52Y (p.His52Tyr) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- rs1590104432
- ClinGen CA379888373
- ClinVar RCV000788729
- ClinVar RCV001856228
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.85
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 12; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)