K132R (p.Lys132Arg) variant of ABCC9 (O60706)
K132R (p.Lys132Arg) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrichotic osteochondrodysplasia Cantu type; Dilat. 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.
K132R (p.Lys132Arg) variant details
- p.Lys132Arg
- rs727505161
- ClinGen CA185228
- ClinVar RCV000156632
- ClinVar RCV001850166
- Uncertain significance
- Cardiovascular phenotype; Hypertrichotic osteochondrodysplasia Cantu type; Dilat
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.75
- CADD 24.40
- PolyPhen-2 0.65
- SIFT 0.24
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrichotic osteochondrodysplasia C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Cantú Syndrome. (PMID 25275207)