N3K (p.Asn3Lys) variant of MMADHC (Q9H3L0)
N3K (p.Asn3Lys) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- ExAC rs756642186
- TOPMed rs756642186
- gnomAD rs756642186
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.19
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available