I82R (p.Ile82Arg) variant of SLC25A14 (O95258)
I82R (p.Ile82Arg) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I82R (p.Ile82Arg) variant details
- p.Ile82Arg
- gnomAD X-130346619-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.29
- MetaSVM -0.47
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available