E63K (p.Glu63Lys) variant of PDGFRB (P09619)
E63K (p.Glu63Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- NCI-TCGA Cosmic COSV5580
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.04
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available