A38T (p.Ala38Thr) variant of MMACHC (Q9Y4U1)
A38T (p.Ala38Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- gnomAD 1-45507386-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available