R78C (p.Arg78Cys) variant of SLC25A14 (O95258)
R78C (p.Arg78Cys) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- TOPMed rs1004559926
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.41
- MetaSVM -0.11
- CADD 21.10
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available