R144Q (p.Arg144Gln) variant of SLC6A4 (P31645)
R144Q (p.Arg144Gln) 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 0.70 / 1. The record also includes population frequency data and structural context.
R144Q (p.Arg144Gln) variant details
- p.Arg144Gln
- rs147306146
- cosmic curated COSV55566
- ESP rs147306146
- ExAC rs147306146
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM 0.03
- CADD 29.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available