M45T (p.Met45Thr) variant of CDC42 (P60953)
M45T (p.Met45Thr) 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 0.60 / 1. The record also includes population frequency data and structural context.
M45T (p.Met45Thr) variant details
- p.Met45Thr
- rs2522184429
- ClinVar RCV004576073
- cosmic curated COSV10021
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available