D36V (p.Asp36Val) variant of MCCC2 (Q9HCC0)
D36V (p.Asp36Val) 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 and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- TOPMed rs1467574687
- gnomAD rs1467574687
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available