S54N (p.Ser54Asn) variant of MMACHC (Q9Y4U1)
S54N (p.Ser54Asn) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- gnomAD rs1173221159
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.71
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available