H24L (p.His24Leu) variant of MCCC2 (Q9HCC0)
H24L (p.His24Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H24L (p.His24Leu) variant details
- p.His24Leu
- gnomAD 5-71587496-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.68
- CADD 24.10
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available