G14V (p.Gly14Val) variant of PDGFRB (P09619)
G14V (p.Gly14Val) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- TOPMed rs1252598875
- gnomAD rs1252598875
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available