E111G (p.Glu111Gly) variant of MCCC1 (Q96RQ3)
E111G (p.Glu111Gly) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E111G (p.Glu111Gly) variant details
- p.Glu111Gly
- gnomAD rs1717918101
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- CADD 31.00
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available