I75N (p.Ile75Asn) variant of SLC25A14 (O95258)
I75N (p.Ile75Asn) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I75N (p.Ile75Asn) variant details
- p.Ile75Asn
- TOPMed rs1212037064
- gnomAD rs1212037064
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.26
- MetaSVM -0.74
- CADD 18.40
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available