N27S (p.Asn27Ser) variant of MMADHC (Q9H3L0)
N27S (p.Asn27Ser) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- rs766017009
- ClinGen CA1902506
- ClinVar RCV001916592
- ExAC rs766017009
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.16
- CADD 2.81
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)