A18T (p.Ala18Thr) variant of MCCC2 (Q9HCC0)
A18T (p.Ala18Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 5-71587477-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.20
- CADD 8.64
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available