T30I (p.Thr30Ile) variant of SLC25A14 (O95258)
T30I (p.Thr30Ile) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- gnomAD X-130345195-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.25
- MetaSVM -0.80
- CADD 16.20
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available