H43P (p.His43Pro) variant of MMADHC (Q9H3L0)
H43P (p.His43Pro) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H43P (p.His43Pro) variant details
- p.His43Pro
- ESP rs373627181
- ExAC rs373627181
- TOPMed rs373627181
- gnomAD rs373627181
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.61
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available