V30E (p.Val30Glu) variant of CD274 (Programmed cell death 1 ligand 1)
V30E (p.Val30Glu) in CD274 (Programmed cell death 1 ligand 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V30E (p.Val30Glu) variant details
- p.Val30Glu
- gnomAD 9-5457115-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.46
- AlphaMissense 0.50
- MetaLR 0.37
- MetaSVM -0.49
- CADD 24.10
- PolyPhen-2 0.65
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available