G20V (p.Gly20Val) variant of MMACHC (Q9Y4U1)
G20V (p.Gly20Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 1-45500391-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.10
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available