A23V (p.Ala23Val) variant of SLC6A1 (P30531)
A23V (p.Ala23Val) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD rs1697189836
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.10
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available