N48D (p.Asn48Asp) variant of DPYD (Q12882)
N48D (p.Asn48Asp) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- ExAC rs777238016
- TOPMed rs777238016
- gnomAD rs777238016
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.19
- MetaLR 0.11
- MetaSVM -1.00
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available