N120T (p.Asn120Thr) variant of DPYD (Q12882)
N120T (p.Asn120Thr) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
N120T (p.Asn120Thr) variant details
- p.Asn120Thr
- ExAC rs771534236
- TOPMed rs771534236
- gnomAD rs771534236
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.64
- MetaLR 0.73
- MetaSVM 0.56
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available