D43A (p.Asp43Ala) variant of SLC6A1 (P30531)
D43A (p.Asp43Ala) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D43A (p.Asp43Ala) variant details
- p.Asp43Ala
- gnomAD 3-11017339-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.16
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available