R76S (p.Arg76Ser) variant of DCX (O43602)
R76S (p.Arg76Ser) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
R76S (p.Arg76Ser) variant details
- p.Arg76Ser
- gnomAD rs587783534
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.79
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available