G500D (p.Gly500Asp) variant of CUL3 (Cullin-3)
G500D (p.Gly500Asp) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NK-cell enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
G500D (p.Gly500Asp) variant details
- p.Gly500Asp
- rs1574631977
- ClinGen CA350826117
- ClinVar RCV000791308
- Ensembl rs1574631977
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.60
- MetaLR 0.42
- MetaSVM -0.43
- PolyPhen-2 0.76
- SIFT 0.13
- EVE 0.42
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available