G20A (p.Gly20Ala) variant of MMACHC (Q9Y4U1)
G20A (p.Gly20Ala) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- gnomAD 1-45500391-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available