I30I (p.Ile30Ile) variant of PDGFRA (P16234)
I30I (p.Ile30Ile) in PDGFRA (P16234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I30I (p.Ile30Ile) variant details
- p.Ile30Ile
- gnomAD 4-54261135-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 10.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available