P20T (p.Pro20Thr) variant of MCCC2 (Q9HCC0)
P20T (p.Pro20Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD 5-71587483-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.21
- CADD 5.00
- PolyPhen-2 0.00
- SIFT 0.97
- Population evidence available
- Structural context available
- Literature evidence available