S51C (p.Ser51Cys) variant of SLC25A14 (O95258)
S51C (p.Ser51Cys) 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.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- gnomAD X-130345258-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.53
- MetaSVM 0.01
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available