R16T (p.Arg16Thr) variant of MCCC1 (Q96RQ3)
R16T (p.Arg16Thr) 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.
R16T (p.Arg16Thr) variant details
- p.Arg16Thr
- ExAC rs753835386
- TOPMed rs753835386
- gnomAD rs753835386
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.52
- CADD 16.20
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available