T58A (p.Thr58Ala) variant of SLC25A14 (O95258)
T58A (p.Thr58Ala) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T58A (p.Thr58Ala) variant details
- p.Thr58Ala
- gnomAD X-130346546-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.61
- MetaSVM 0.28
- CADD 24.70
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available