E45A (p.Glu45Ala) variant of DCC (Netrin receptor DCC)
E45A (p.Glu45Ala) in DCC (Netrin receptor DCC) 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 0.52 / 1. The record also includes population frequency data and structural context.
E45A (p.Glu45Ala) variant details
- p.Glu45Ala
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.42
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available