N62H (p.Asn62His) variant of SIX1 (Homeobox protein SIX1)
N62H (p.Asn62His) 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 Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N62H (p.Asn62His) variant details
- p.Asn62His
- rs2502644593
- ClinGen CA389910864
- ClinVar RCV003801359
- Uncertain significance
- Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)