A95G (p.Ala95Gly) variant of MCCC1 (Q96RQ3)
A95G (p.Ala95Gly) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A95G (p.Ala95Gly) variant details
- p.Ala95Gly
- Ensembl rs1717924789
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available