S16P (p.Ser16Pro) variant of MCCC2 (Q9HCC0)
S16P (p.Ser16Pro) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- gnomAD 5-71587471-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.30
- CADD 9.62
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available