V4F (p.Val4Phe) variant of MCCC2 (Q9HCC0)
V4F (p.Val4Phe) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V4F (p.Val4Phe) variant details
- p.Val4Phe
- gnomAD 5-71587435-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.24
- CADD 5.92
- PolyPhen-2 0.02
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available