A38A (p.Ala38Ala) variant of MMACHC (Q9Y4U1)
A38A (p.Ala38Ala) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs372262322
- gnomAD 1-45507388-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 7.16
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available