H143R (p.His143Arg) variant of SLC6A4 (P31645)
H143R (p.His143Arg) 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 0.72 / 1. The record also includes population frequency data and structural context.
H143R (p.His143Arg) variant details
- p.His143Arg
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99911
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.59
- MetaSVM 0.17
- CADD 24.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available