G19V (p.Gly19Val) variant of MCCC2 (Q9HCC0)
G19V (p.Gly19Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 5-71587481-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.27
- CADD 8.39
- PolyPhen-2 0.01
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available