R16K (p.Arg16Lys) variant of MCCC1 (Q96RQ3)
R16K (p.Arg16Lys) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R16K (p.Arg16Lys) variant details
- p.Arg16Lys
- ExAC rs753835386
- TOPMed rs753835386
- gnomAD rs753835386
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.26
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available