L102P (p.Leu102Pro) variant of ABCC9 (O60706)
L102P (p.Leu102Pro) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1O; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L102P (p.Leu102Pro) variant details
- p.Leu102Pro
- rs374659816
- ClinGen CA6481903
- ClinVar RCV000490221
- ClinVar RCV000767047
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1O; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.77
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1O; not specifi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)