R1347C (p.Arg1347Cys) variant of ABCC9 (O60706)
R1347C (p.Arg1347Cys) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrichotic osteochondrodysplasia Cantu type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R1347C (p.Arg1347Cys) variant details
- p.Arg1347Cys
- rs2137165886
- NCI-TCGA Cosmic COSV5398
- cosmic curated COSV53980
- ClinVar RCV005227166
- Likely pathogenic
- Hypertrichotic osteochondrodysplasia Cantu type
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.96
- MetaLR 0.93
- MetaSVM 1.10
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypertrichotic osteochondrodysplasia Cantu type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Cantú Syndrome. (PMID 25275207)