R1138Q (p.Arg1138Gln) variant of ABCC6 (O95255)
R1138Q (p.Arg1138Gln) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum, fo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1138Q (p.Arg1138Gln) variant details
- p.Arg1138Gln
- rs60791294
- ClinGen CA281565
- NCI-TCGA Cosmic COSV9922
- ClinVar RCV000006939
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum, fo
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Arterial calcification, generalized, of infancy, 2; Pseudoxantho)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. (PMID 10811882)
- Cited in: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. (PMID 10835642)