I44I (p.Ile44Ile) variant of SLC18A2 (Q05940)
I44I (p.Ile44Ile) in SLC18A2 (Q05940) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I44I (p.Ile44Ile) variant details
- p.Ile44Ile
- rs1249932065
- gnomAD 10-117243981-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 11.40
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available