A55T (p.Ala55Thr) variant of SLC6A4 (P31645)
A55T (p.Ala55Thr) in SLC6A4 (P31645) 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 0.16 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs770728789
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55567
- ExAC rs770728789
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.04
- CADD 8.93
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available