S51P (p.Ser51Pro) variant of SLC25A14 (O95258)
S51P (p.Ser51Pro) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- gnomAD X-130345257-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.39
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available