Y23H (p.Tyr23His) variant of MCCC2 (Q9HCC0)
Y23H (p.Tyr23His) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- gnomAD 5-71587492-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.70
- CADD 27.70
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available