T24P (p.Thr24Pro) variant of CDC42 (P60953)
T24P (p.Thr24Pro) 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 0.80 / 1. The record also includes structural context.
T24P (p.Thr24Pro) variant details
- p.Thr24Pro
- rs2124005167
- ClinGen CA338912170
- ClinVar RCV002211080
- Ensembl rs2124005167
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.80
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available