S18N (p.Ser18Asn) variant of SLC6A1 (P30531)
S18N (p.Ser18Asn) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- cosmic curated COSV55119
- ExAC rs755910025
- gnomAD rs755910025
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available