S69N (p.Ser69Asn) variant of MMACHC (Q9Y4U1)
S69N (p.Ser69Asn) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- 1000Genomes rs568459545
- TOPMed rs568459545
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.24
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available