G39A (p.Gly39Ala) variant of PDGFRB (P09619)
G39A (p.Gly39Ala) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- Ensembl rs2113912717
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available