I21V (p.Ile21Val) variant of PDGFRA (P16234)
I21V (p.Ile21Val) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- gnomAD 4-54240092-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 2.94
- Most common in the Non-Finnish European population (allele frequency 7.8e-06)
- Structural context available
- Literature evidence available