P17H (p.Pro17His) variant of MCCC2 (Q9HCC0)
P17H (p.Pro17His) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- gnomAD 5-71587475-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.20
- CADD 10.00
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available