R78G (p.Arg78Gly) variant of SLC25A14 (O95258)
R78G (p.Arg78Gly) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R78G (p.Arg78Gly) variant details
- p.Arg78Gly
- gnomAD X-130346606-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.26
- MetaSVM -0.81
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available