D59N (p.Asp59Asn) variant of MMADHC (Q9H3L0)
D59N (p.Asp59Asn) in MMADHC (Q9H3L0) 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 0.81 / 1. The record also includes population frequency data and structural context.
D59N (p.Asp59Asn) variant details
- p.Asp59Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available