R144* (p.Arg144Ter) variant of SLC6A4 (P31645)
R144* (p.Arg144Ter) in SLC6A4 (P31645) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R144* (p.Arg144Ter) variant details
- p.Arg144Ter
- cosmic curated COSV10437
- ExAC rs759098089
- TOPMed rs759098089
- gnomAD rs759098089
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 36.00
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available