H52P (p.His52Pro) variant of CSRP3 (P50461)
H52P (p.His52Pro) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
H52P (p.His52Pro) variant details
- p.His52Pro
- rs767326021
- ClinGen CA379888370
- ClinVar RCV002947483
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.81
- MetaLR 0.64
- MetaSVM 0.03
- PolyPhen-2 0.03
- SIFT 0.08
- EVE 0.35
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12)
- 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)