A101S (p.Ala101Ser) variant of ABCC6 (O95255)
A101S (p.Ala101Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A101S (p.Ala101Ser) variant details
- p.Ala101Ser
- rs756608278
- ClinGen CA7926660
- ClinVar RCV002680620
- ClinVar RCV005021764
- Conflicting interpretations
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.09
- CADD 15.80
- PolyPhen-2 0.08
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)