P5Q (p.Pro5Gln) variant of SIX1 (Homeobox protein SIX1)
P5Q (p.Pro5Gln) 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 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- rs771057416
- ClinGen CA7212872
- ClinVar RCV003780491
- ExAC rs771057416
- Uncertain significance
- Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.28
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)