N32N (p.Asn32Asn) variant of MMACHC (Q9Y4U1)
N32N (p.Asn32Asn) 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.
N32N (p.Asn32Asn) variant details
- p.Asn32Asn
- gnomAD 1-45507370-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available