A9P (p.Ala9Pro) variant of PDGFRB (P09619)
A9P (p.Ala9Pro) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- ExAC rs748711817
- gnomAD rs748711817
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- CADD 22.00
- PolyPhen-2 0.40
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available