A2T (p.Ala2Thr) variant of SLC18A2 (Q05940)
A2T (p.Ala2Thr) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 10-117241697-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 28.00
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available