T38A (p.Thr38Ala) variant of SLC18A2 (Q05940)
T38A (p.Thr38Ala) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- gnomAD 10-117241805-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.80
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available