T30N (p.Thr30Asn) variant of SLC25A14 (O95258)
T30N (p.Thr30Asn) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T30N (p.Thr30Asn) variant details
- p.Thr30Asn
- gnomAD X-130345195-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.24
- MetaSVM -0.87
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available