N120S (p.Asn120Ser) variant of DPYD (Q12882)
N120S (p.Asn120Ser) in DPYD (Q12882) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N120S (p.Asn120Ser) variant details
- p.Asn120Ser
- rs771534236
- NCI-TCGA Cosmic COSV6008
- cosmic curated COSV60082
- ExAC rs771534236
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.64
- MetaLR 0.67
- MetaSVM 0.27
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available