I43V (p.Ile43Val) variant of SLC18A2 (Q05940)
I43V (p.Ile43Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- gnomAD rs1213537265
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 25.00
- PolyPhen-2 0.51
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available