S16F (p.Ser16Phe) variant of MCCC2 (Q9HCC0)
S16F (p.Ser16Phe) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- gnomAD 5-71587472-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available