R64H (p.Arg64His) variant of SIX1 (Homeobox protein SIX1)
R64H (p.Arg64His) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Autosomal dominant nonsyndromic hearing loss 23; Branch. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- rs1051653507
- ClinGen CA261723226
- NCI-TCGA Cosmic COSV5595
- cosmic curated COSV55959
- Conflicting interpretations
- Inborn genetic diseases; Autosomal dominant nonsyndromic hearing loss 23; Branch
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Autosomal dominant nonsyndromic hearing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)