F8Y (p.Phe8Tyr) variant of PDGFRA (P16234)
F8Y (p.Phe8Tyr) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F8Y (p.Phe8Tyr) variant details
- p.Phe8Tyr
- gnomAD 4-54258791-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.12
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available