L139R (p.Leu139Arg) variant of SIX1 (Homeobox protein SIX1)
L139R (p.Leu139Arg) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
L139R (p.Leu139Arg) variant details
- p.Leu139Arg
- rs1895001312
- ClinGen CA389910355
- ClinVar RCV001250998
- Ensembl rs1895001312
- Likely pathogenic
- Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Branchiootic syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)