P54S (p.Pro54Ser) variant of VCAN (Versican core protein)
P54S (p.Pro54Ser) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Wagner disease; Vitreoretinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs140063016
- ClinGen CA3332407
- ClinVar RCV001067230
- ClinVar RCV001154164
- Conflicting interpretations
- not provided; Wagner disease; Vitreoretinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wagner disease; Vitreoretinopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available