G38D (p.Gly38Asp) variant of MCCC2 (Q9HCC0)
G38D (p.Gly38Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- Ensembl rs1160233617
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available