H24R (p.His24Arg) variant of MCCC2 (Q9HCC0)
H24R (p.His24Arg) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H24R (p.His24Arg) variant details
- p.His24Arg
- gnomAD 5-71587496-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.55
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available