I52T (p.Ile52Thr) variant of SLC25A14 (O95258)
I52T (p.Ile52Thr) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- TOPMed rs1163024491
- gnomAD rs1163024491
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.40
- MetaSVM -0.33
- CADD 24.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available