V42I (p.Val42Ile) variant of CDC42 (P60953)
V42I (p.Val42Ile) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- rs1057518022
- ClinGen CA16042336
- ClinVar RCV000414468
- Ensembl rs1057518022
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.57
- MetaLR 0.60
- MetaSVM 0.27
- PolyPhen-2 0.69
- SIFT 0.01
- EVE 0.27
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available