S44I (p.Ser44Ile) variant of SLC6A3 (Q01959)
S44I (p.Ser44Ile) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- TOPMed rs901057968
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.89
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available