H112R (p.His112Arg) variant of MMADHC (Q9H3L0)
H112R (p.His112Arg) 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 0.72 / 1. The record also includes population frequency data and structural context.
H112R (p.His112Arg) variant details
- p.His112Arg
- rs774720255
- ExAC rs774720255
- gnomAD rs774720255
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.78
- CADD 24.70
- PolyPhen-2 0.78
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available