D30Y (p.Asp30Tyr) variant of RP2 (Protein XRP2)
D30Y (p.Asp30Tyr) in RP2 (Protein XRP2) 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 0.73 / 1. The record also includes population frequency data and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- NCI-TCGA Cosmic COSV5446
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.73
- CADD 29.10
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available