R133Q (p.Arg133Gln) variant of SLC25A20 (O43772)
R133Q (p.Arg133Gln) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R133Q (p.Arg133Gln) variant details
- p.Arg133Gln
- ExAC rs773887820
- TOPMed rs773887820
- gnomAD rs773887820
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.74
- MetaLR 0.70
- MetaSVM 0.43
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available