T30S (p.Thr30Ser) variant of SLC25A14 (O95258)
T30S (p.Thr30Ser) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- gnomAD X-130345194-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.95
- CADD 1.93
- Population evidence available
- Structural context available
- Literature evidence available