R78H (p.Arg78His) variant of SLC25A14 (O95258)
R78H (p.Arg78His) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R78H (p.Arg78His) variant details
- p.Arg78His
- cosmic curated COSV54419
- TOPMed rs1011354966
- gnomAD rs1011354966
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.28
- ESM-1b 0.48
- AlphaMissense 0.11
- MetaLR 0.27
- MetaSVM -0.72
- CADD 22.70
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available