D60N (p.Asp60Asn) variant of MMACHC (Q9Y4U1)
D60N (p.Asp60Asn) in MMACHC (Q9Y4U1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- 1000Genomes rs6662272
- ESP rs6662272
- ExAC rs6662272
- TOPMed rs6662272
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.71
- CADD 27.70
- PolyPhen-2 0.78
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available