H34R (p.His34Arg) variant of SLC25A14 (O95258)
H34R (p.His34Arg) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- TOPMed rs2033392342
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.20
- MetaSVM -0.86
- CADD 16.80
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available