V23I (p.Val23Ile) variant of MMACHC (Q9Y4U1)
V23I (p.Val23Ile) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- gnomAD 1-45500399-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.29
- MetaLR 0.73
- MetaSVM 0.23
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available