G5A (p.Gly5Ala) variant of PDGFRB (P09619)
G5A (p.Gly5Ala) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- gnomAD rs1431198340
- Missense
- Variant Prioritization Score for Impact Estimate 0.092
- REVEL 0.04
- CADD 1.31
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available