A15T (p.Ala15Thr) variant of MCCC2 (Q9HCC0)
A15T (p.Ala15Thr) 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.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- gnomAD 5-71587468-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.28
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available