S2R (p.Ser2Arg) variant of SLC6A3 (Q01959)
S2R (p.Ser2Arg) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- ExAC rs748147058
- gnomAD rs748147058
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.07
- MetaLR 0.21
- MetaSVM -0.89
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available