P50T (p.Pro50Thr) variant of SLC6A3 (Q01959)
P50T (p.Pro50Thr) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- gnomAD rs1352913042
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.14
- MetaLR 0.24
- MetaSVM -0.93
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available