V40F (p.Val40Phe) variant of VCAN (Versican core protein)
V40F (p.Val40Phe) 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 0.55 / 1. The record also includes population frequency data and structural context.
V40F (p.Val40Phe) variant details
- p.Val40Phe
- rs763096343
- ClinGen CA3332394
- ClinVar RCV001980364
- ExAC rs763096343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.60
- CADD 25.10
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available