Q39R (p.Gln39Arg) variant of SLC25A20 (O43772)
Q39R (p.Gln39Arg) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- TOPMed rs2083881929
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.96
- MetaLR 0.87
- MetaSVM 0.99
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available