Y70C (p.Tyr70Cys) variant of DCX (O43602)
Y70C (p.Tyr70Cys) in DCX (O43602) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y70C (p.Tyr70Cys) variant details
- p.Tyr70Cys
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57570
- Ensembl rs2147276399
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available