P34L (p.Pro34Leu) variant of CDC42 (P60953)
P34L (p.Pro34Leu) in CDC42 (P60953) 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 0.76 / 1. The record also includes structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs1645575465
- ClinGen CA338912393
- ClinVar RCV001765071
- Ensembl rs1645575465
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available