Q73R (p.Gln73Arg) variant of SLC25A14 (O95258)
Q73R (p.Gln73Arg) in SLC25A14 (O95258) 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, published literature, and structural context.
Q73R (p.Gln73Arg) variant details
- p.Gln73Arg
- gnomAD X-130346592-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.48
- MetaSVM 0.00
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available