A43S (p.Ala43Ser) variant of CSRP3 (P50461)
A43S (p.Ala43Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- rs1174058654
- ClinGen CA379888418
- ClinVar RCV001036949
- TOPMed rs1174058654
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.24
- MetaLR 0.40
- MetaSVM -0.42
- PolyPhen-2 0.01
- SIFT 0.71
- EVE 0.19
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M)
- 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)