H34L (p.His34Leu) variant of SLC25A14 (O95258)
H34L (p.His34Leu) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H34L (p.His34Leu) variant details
- p.His34Leu
- TOPMed rs2033392342
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.21
- MetaSVM -0.84
- CADD 20.30
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available