P21S (p.Pro21Ser) variant of ABCC6 (O95255)
P21S (p.Pro21Ser) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs1235912910
- ClinGen CA395202661
- ClinVar RCV000499349
- UniProt VAR 072805
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.03
- CADD 6.32
- PolyPhen-2 0.03
- SIFT 0.39
- 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 2.7e-06)
- Structural context available
- Cited in: Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. (PMID 25615550)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)