S18C (p.Ser18Cys) variant of SLC6A1 (P30531)
S18C (p.Ser18Cys) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- gnomAD 3-11017263-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 0.32
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available