S95L (p.Ser95Leu) variant of ABCC9 (O60706)
S95L (p.Ser95Leu) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S95L (p.Ser95Leu) variant details
- p.Ser95Leu
- rs376432144
- ClinGen CA6481922
- ClinVar RCV002790720
- ESP rs376432144
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)