A49A (p.Ala49Ala) variant of MMACHC (Q9Y4U1)
A49A (p.Ala49Ala) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- rs1570829648
- gnomAD 1-45507421-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 9.47
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available