E28D (p.Glu28Asp) variant of SIX1 (Homeobox protein SIX1)
E28D (p.Glu28Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs146357380
- ClinGen CA7212863
- ClinVar RCV003140491
- ESP rs146357380
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.508
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)