L41M (p.Leu41Met) variant of PDGFRA (P16234)
L41M (p.Leu41Met) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L41M (p.Leu41Met) variant details
- p.Leu41Met
- gnomAD 4-54261166-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available