I21S (p.Ile21Ser) variant of PDGFRA (P16234)
I21S (p.Ile21Ser) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I21S (p.Ile21Ser) variant details
- p.Ile21Ser
- gnomAD 4-54240093-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.38
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- Literature evidence available