P40S (p.Pro40Ser) variant of ABCC6 (O95255)
P40S (p.Pro40Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- rs778544828
- ClinGen CA395202523
- cosmic curated COSV10585
- ClinVar RCV000499140
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.83
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)