P34Q (p.Pro34Gln) variant of CDC42 (P60953)
P34Q (p.Pro34Gln) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CDC42-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- rs1645575465
- ClinGen CA338912398
- cosmic curated COSV10021
- ClinVar RCV001312069
- Conflicting interpretations
- CDC42-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.79
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (CDC42-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available