D60D (p.Asp60Asp) variant of MMACHC (Q9Y4U1)
D60D (p.Asp60Asp) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D60D (p.Asp60Asp) variant details
- p.Asp60Asp
- rs535215325
- gnomAD 1-45507454-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 8.90
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Literature evidence available