S37F (p.Ser37Phe) variant of VCAN (Versican core protein)
S37F (p.Ser37Phe) 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 Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- ExAC rs770045298
- gnomAD rs770045298
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.42
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available