H34Q (p.His34Gln) variant of SLC25A14 (O95258)
H34Q (p.His34Gln) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H34Q (p.His34Gln) variant details
- p.His34Gln
- gnomAD X-130345208-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.88
- CADD 17.40
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Literature evidence available