W38G (p.Trp38Gly) variant of C2CD2L (O14523)
W38G (p.Trp38Gly) in C2CD2L (O14523) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
W38G (p.Trp38Gly) variant details
- p.Trp38Gly
- rs2497551367
- ClinGen CA382921857
- ClinVar RCV004108571
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available