N7T (p.Asn7Thr) variant of MMADHC (Q9H3L0)
N7T (p.Asn7Thr) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N7T (p.Asn7Thr) variant details
- p.Asn7Thr
- TOPMed rs1389820565
- gnomAD rs1389820565
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.32
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available