Y23N (p.Tyr23Asn) variant of CDC42 (P60953)
Y23N (p.Tyr23Asn) 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 0.87 / 1. The record also includes structural context.
Y23N (p.Tyr23Asn) variant details
- p.Tyr23Asn
- rs1645575312
- ClinGen CA338912152
- ClinVar RCV001268618
- Ensembl rs1645575312
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.96
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available