A117S (p.Ala117Ser) variant of MCCC1 (Q96RQ3)
A117S (p.Ala117Ser) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A117S (p.Ala117Ser) variant details
- p.Ala117Ser
- ExAC rs781171072
- gnomAD rs781171072
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.90
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available