S59I (p.Ser59Ile) variant of VCAN (Versican core protein)
S59I (p.Ser59Ile) in VCAN (Versican core protein) 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 0.30 / 1. The record also includes population frequency data and structural context.
S59I (p.Ser59Ile) variant details
- p.Ser59Ile
- rs769983691
- ClinGen CA3332408
- ClinVar RCV003546220
- ExAC rs769983691
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.26
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available