A29T (p.Ala29Thr) variant of MCCC2 (Q9HCC0)
A29T (p.Ala29Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- gnomAD 5-71587510-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available