P20Q (p.Pro20Gln) variant of MCCC2 (Q9HCC0)
P20Q (p.Pro20Gln) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD 5-71587484-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.33
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available