I52I (p.Ile52Ile) variant of SLC25A14 (O95258)
I52I (p.Ile52Ile) in SLC25A14 (O95258) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I52I (p.Ile52Ile) variant details
- p.Ile52Ile
- rs145571486
- gnomAD X-130345262-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.80
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available