H5I (p.His5Ile) variant of PDGFRA (P16234)
H5I (p.His5Ile) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H5I (p.His5Ile) variant details
- p.His5Ile
- gnomAD 4-54258778-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available