S72P (p.Ser72Pro) variant of SLC6A3 (Q01959)
S72P (p.Ser72Pro) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
S72P (p.Ser72Pro) variant details
- p.Ser72Pro
- TOPMed rs1755441279
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.87
- MetaLR 0.75
- MetaSVM 0.76
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available