L12F (p.Leu12Phe) variant of PDGFRB (P09619)
L12F (p.Leu12Phe) in PDGFRB (P09619) is a missense change. 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.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ExAC rs746497331
- gnomAD rs746497331
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.06
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available