A20S (p.Ala20Ser) variant of SLC25A14 (O95258)
A20S (p.Ala20Ser) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD X-130340336-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.44
- MetaSVM -0.36
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available