H52Q (p.His52Gln) variant of CSRP3 (P50461)
H52Q (p.His52Gln) 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 0.73 / 1. The record also includes published literature and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- rs1020735963
- Ensembl rs1020735963
- ClinGen CA379888368
- ClinVar RCV002273641
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.59
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.52
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; not p)
- 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)