N120K (p.Asn120Lys) variant of DPYD (Q12882)
N120K (p.Asn120Lys) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
N120K (p.Asn120Lys) variant details
- p.Asn120Lys
- gnomAD rs942607291
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.78
- MetaLR 0.79
- MetaSVM 0.76
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available