Y23C (p.Tyr23Cys) variant of CDC42 (P60953)
Y23C (p.Tyr23Cys) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder; Inborn genetic diseases; Fetal anomalies with a lik. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- rs797044916
- ClinGen CA204780
- ClinVar RCV000190749
- ClinVar RCV001093410
- Pathogenic
- Neurodevelopmental disorder; Inborn genetic diseases; Fetal anomalies with a lik
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Neurodevelopmental disorder; Inborn genetic diseases; Fetal anom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)