V51F (p.Val51Phe) variant of PDGFRB (P09619)
V51F (p.Val51Phe) in PDGFRB (P09619) 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 0.15 / 1. The record also includes population frequency data and structural context.
V51F (p.Val51Phe) variant details
- p.Val51Phe
- NCI-TCGA Cosmic COSV5580
- NCI-TCGA Cosmic COSV5581
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.08
- CADD 17.70
- PolyPhen-2 0.36
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available