A113V (p.Ala113Val) variant of SLC37A4 (O43826)
A113V (p.Ala113Val) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A113V (p.Ala113Val) variant details
- p.Ala113Val
- TOPMed rs1440392093
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available