A13T (p.Ala13Thr) variant of MCCC2 (Q9HCC0)
A13T (p.Ala13Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD 5-71587462-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.15
- CADD 8.43
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available