I13V (p.Ile13Val) variant of SLC37A4 (O43826)
I13V (p.Ile13Val) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- ExAC rs781865744
- TOPMed rs781865744
- gnomAD rs781865744
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.18
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available