L20I (p.Leu20Ile) variant of PDGFRA (P16234)
L20I (p.Leu20Ile) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- gnomAD 4-54261103-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.08
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available