I44T (p.Ile44Thr) variant of SLC18A2 (Q05940)
I44T (p.Ile44Thr) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- gnomAD rs1258627120
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 28.00
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available