Q131R (p.Gln131Arg) variant of ABCC6 (O95255)
Q131R (p.Gln131Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste; Arterial calcif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q131R (p.Gln131Arg) variant details
- p.Gln131Arg
- rs369280729
- ClinGen CA278671485
- ClinVar RCV002961283
- ClinVar RCV003420482
- Conflicting interpretations
- Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste; Arterial calcif
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.03
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.002)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)