D36G (p.Asp36Gly) variant of MCCC2 (Q9HCC0)
D36G (p.Asp36Gly) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D36G (p.Asp36Gly) variant details
- p.Asp36Gly
- TOPMed rs1467574687
- gnomAD rs1467574687
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.76
- CADD 26.10
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available