T30A (p.Thr30Ala) variant of SLC25A14 (O95258)
T30A (p.Thr30Ala) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- gnomAD rs1326949180
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.16
- MetaSVM -0.92
- CADD 3.50
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available