N3S (p.Asn3Ser) variant of MMADHC (Q9H3L0)
N3S (p.Asn3Ser) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- TOPMed rs529455427
- gnomAD rs529455427
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available