P67L (p.Pro67Leu) variant of ABCC9 (O60706)
P67L (p.Pro67Leu) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrichotic osteochondrodysplasia Cantu type; Cardiovascular phenotype; Dilat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs766600615
- ClinGen CA6481928
- ClinVar RCV001221663
- ClinVar RCV001751425
- Uncertain significance
- Hypertrichotic osteochondrodysplasia Cantu type; Cardiovascular phenotype; Dilat
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.90
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrichotic osteochondrodysplasia Cantu type; Cardiovascular)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Cantú Syndrome. (PMID 25275207)