R48I (p.Arg48Ile) variant of PDGFRA (P16234)
R48I (p.Arg48Ile) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R48I (p.Arg48Ile) variant details
- p.Arg48Ile
- rs2110186408
- gnomAD 4-54240063-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Literature evidence available