N126D (p.Asn126Asp) variant of MMADHC (Q9H3L0)
N126D (p.Asn126Asp) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N126D (p.Asn126Asp) variant details
- p.Asn126Asp
- ExAC rs767705559
- gnomAD rs767705559
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.11
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available