N7S (p.Asn7Ser) variant of MMADHC (Q9H3L0)
N7S (p.Asn7Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N7S (p.Asn7Ser) variant details
- p.Asn7Ser
- TOPMed rs1389820565
- gnomAD rs1389820565
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available