D59V (p.Asp59Val) variant of MMADHC (Q9H3L0)
D59V (p.Asp59Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D59V (p.Asp59Val) variant details
- p.Asp59Val
- ExAC rs781154636
- gnomAD rs781154636
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.96
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available