V4D (p.Val4Asp) variant of MCCC2 (Q9HCC0)
V4D (p.Val4Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V4D (p.Val4Asp) variant details
- p.Val4Asp
- gnomAD 5-71587436-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.34
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available