S51A (p.Ser51Ala) variant of SLC25A14 (O95258)
S51A (p.Ser51Ala) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S51A (p.Ser51Ala) variant details
- p.Ser51Ala
- gnomAD X-130345257-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.32
- MetaSVM -0.60
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available