W38S (p.Trp38Ser) variant of ABCC6 (O95255)
W38S (p.Trp38Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
W38S (p.Trp38Ser) variant details
- p.Trp38Ser
- rs72653752
- ClinGen CA7926718
- ClinVar RCV000499269
- ClinVar RCV001577317
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.66
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)