N3D (p.Asn3Asp) variant of MMADHC (Q9H3L0)
N3D (p.Asn3Asp) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- ExAC rs764550264
- gnomAD rs764550264
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.19
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available