L21F (p.Leu21Phe) variant of PDGFRB (P09619)
L21F (p.Leu21Phe) 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 0.13 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- NCI-TCGA Cosmic COSV5580
- Ensembl rs2113912885
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 11.30
- PolyPhen-2 0.11
- SIFT 0.59
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available