C17Y (p.Cys17Tyr) variant of PPP2R5D (Q14738)
C17Y (p.Cys17Tyr) in PPP2R5D (Q14738) 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 0.38 / 1. The record also includes population frequency data and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.19
- MetaLR 0.05
- MetaSVM -1.10
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available