H24D (p.His24Asp) variant of MCCC2 (Q9HCC0)
H24D (p.His24Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H24D (p.His24Asp) variant details
- p.His24Asp
- gnomAD 5-71587495-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.76
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available