R54Q (p.Arg54Gln) variant of MMADHC (Q9H3L0)
R54Q (p.Arg54Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs1376956703
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57573
- TOPMed rs1376956703
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.50
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available