Q124L (p.Gln124Leu) variant of MMADHC (Q9H3L0)
Q124L (p.Gln124Leu) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q124L (p.Gln124Leu) variant details
- p.Gln124Leu
- rs886042982
- ClinGen CA10604954
- ClinVar RCV000323620
- TOPMed rs886042982
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.57
- CADD 26.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available