S27P (p.Ser27Pro) variant of MCCC2 (Q9HCC0)
S27P (p.Ser27Pro) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD 5-71587504-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.45
- CADD 14.80
- PolyPhen-2 0.06
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available