E2D (p.Glu2Asp) variant of OCRL (Q01968)
E2D (p.Glu2Asp) in OCRL (Q01968) 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 0.29 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- NCI-TCGA TCGA novel
- gnomAD rs1270889316
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.24
- MetaLR 0.62
- MetaSVM -0.19
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available