N74S (p.Asn74Ser) variant of VCAN (Versican core protein)
N74S (p.Asn74Ser) 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; Vitreoretinopathy; Wagner disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
N74S (p.Asn74Ser) variant details
- p.Asn74Ser
- rs144766017
- ClinGen CA3332415
- ClinVar RCV001051916
- ClinVar RCV001154166
- Conflicting interpretations
- not provided; Vitreoretinopathy; Wagner disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- REVEL 0.08
- CADD 0.11
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Vitreoretinopathy; Wagner disease)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available