N3H (p.Asn3His) variant of MMADHC (Q9H3L0)
N3H (p.Asn3His) 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.
N3H (p.Asn3His) variant details
- p.Asn3His
- ExAC rs764550264
- gnomAD rs764550264
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.18
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available