H34N (p.His34Asn) variant of SLC25A14 (O95258)
H34N (p.His34Asn) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H34N (p.His34Asn) variant details
- p.His34Asn
- gnomAD X-130345206-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.81
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available