L22P (p.Leu22Pro) variant of PDGFRA (P16234)
L22P (p.Leu22Pro) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 4-54261110-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- CADD 13.00
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available