L47R (p.Leu47Arg) variant of PDGFRA (P16234)
L47R (p.Leu47Arg) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L47R (p.Leu47Arg) variant details
- p.Leu47Arg
- gnomAD 4-54261185-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.48
- MetaLR 0.04
- MetaSVM -1.18
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available