R18Q (p.Arg18Gln) variant of MCCC1 (Q96RQ3)
R18Q (p.Arg18Gln) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- 1000Genomes rs539353622
- ExAC rs539353622
- gnomAD rs539353622
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.23
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available