I22S (p.Ile22Ser) variant of SLC25A14 (O95258)
I22S (p.Ile22Ser) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I22S (p.Ile22Ser) variant details
- p.Ile22Ser
- gnomAD X-130340343-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.41
- MetaSVM -0.51
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available