P29L (p.Pro29Leu) variant of RAC1 (P63000)
P29L (p.Pro29Leu) in RAC1 (P63000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely oncogenic in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs1057519948
- NCI-TCGA Cosmic COSV6182
- cosmic curated COSV61821
- Likely oncogenic
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely oncogenic (Neoplasm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)