V40I (p.Val40Ile) variant of VCAN (Versican core protein)
V40I (p.Val40Ile) 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 0.35 / 1. The record also includes population frequency data and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- rs763096343
- ClinGen CA3332393
- ClinVar RCV002617234
- ExAC rs763096343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 24.40
- PolyPhen-2 0.45
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available