I7V (p.Ile7Val) variant of SLC25A14 (O95258)
I7V (p.Ile7Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- ExAC rs770230560
- TOPMed rs770230560
- gnomAD rs770230560
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.68
- CADD 21.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available