P21S (p.Pro21Ser) variant of SLC6A3 (Q01959)
P21S (p.Pro21Ser) in SLC6A3 (Q01959) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs533057143
- 1000Genomes rs533057143
- ExAC rs533057143
- gnomAD rs533057143
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.02
- CADD 4.32
- PolyPhen-2 0.00
- SIFT 0.63
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available