Y39C (p.Tyr39Cys) variant of OCRL (Q01968)
Y39C (p.Tyr39Cys) 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 0.55 / 1. The record also includes population frequency data and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.54
- MetaLR 0.71
- MetaSVM 0.11
- CADD 24.80
- PolyPhen-2 0.39
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available