S72R (p.Ser72Arg) variant of SIX1 (Homeobox protein SIX1)
S72R (p.Ser72Arg) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S72R (p.Ser72Arg) variant details
- p.Ser72Arg
- rs778653697
- ClinGen CA7212846
- ClinVar RCV003328028
- ClinVar RCV005227996
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)