Q112P (p.Gln112Pro) variant of SLC25A20 (O43772)
Q112P (p.Gln112Pro) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Q112P (p.Gln112Pro) variant details
- p.Gln112Pro
- ExAC rs201608596
- TOPMed rs201608596
- gnomAD rs201608596
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.75
- MetaLR 0.58
- MetaSVM 0.12
- CADD 25.00
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available