V129G (p.Val129Gly) variant of DPYD (Q12882)
V129G (p.Val129Gly) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V129G (p.Val129Gly) variant details
- p.Val129Gly
- ExAC rs748320430
- TOPMed rs748320430
- gnomAD rs748320430
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.92
- MetaLR 0.80
- MetaSVM 0.87
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available