D78V (p.Asp78Val) variant of PDGFRB (P09619)
D78V (p.Asp78Val) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D78V (p.Asp78Val) variant details
- p.Asp78Val
- gnomAD rs1436552710
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- CADD 24.10
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available