Q69R (p.Gln69Arg) variant of SLC25A14 (O95258)
Q69R (p.Gln69Arg) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q69R (p.Gln69Arg) variant details
- p.Gln69Arg
- gnomAD X-130346580-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.86
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available