A3T (p.Ala3Thr) variant of MCCC2 (Q9HCC0)
A3T (p.Ala3Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 5-71587432-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.25
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available