I116M (p.Ile116Met) variant of DPYD (Q12882)
I116M (p.Ile116Met) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I116M (p.Ile116Met) variant details
- p.Ile116Met
- Ensembl rs1662930809
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.70
- MetaLR 0.53
- MetaSVM -0.12
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available