S6G (p.Ser6Gly) variant of DPYD (Q12882)
S6G (p.Ser6Gly) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- TOPMed rs1461963206
- gnomAD rs1461963206
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.41
- MetaLR 0.83
- MetaSVM 0.31
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available