A51S (p.Ala51Ser) variant of CSRP3 (P50461)
A51S (p.Ala51Ser) 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 0.44 / 1. The record also includes published literature and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- rs1850560688
- ClinGen CA379888374
- ClinVar RCV001302724
- Ensembl rs1850560688
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.23
- MetaLR 0.46
- MetaSVM -0.34
- PolyPhen-2 0.01
- SIFT 0.78
- EVE 0.21
- 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)