P69L (p.Pro69Leu) variant of CDC42 (P60953)
P69L (p.Pro69Leu) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs1645663343
- ClinVar RCV004560449
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Uncertain significance
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.46
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.46
- ClinVar: Uncertain significance (Macrothrombocytopenia-lymphedema-developmental delay-facial dysm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available