S12L (p.Ser12Leu) variant of ABCC9 (O60706)
S12L (p.Ser12Leu) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- rs766371743
- ClinGen CA233626956
- ClinVar RCV001921731
- TOPMed rs766371743
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.57
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00098)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)