A39S (p.Ala39Ser) variant of SIX1 (Homeobox protein SIX1)
A39S (p.Ala39Ser) 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 0.41 / 1. The record also includes experimental measurements, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- rs1431824329
- ClinGen CA389911017
- ClinVar RCV001935752
- gnomAD rs1431824329
- Uncertain significance
- Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.23
- MetaLR 0.43
- MetaSVM -0.42
- PolyPhen-2 0.08
- SIFT 0.24
- EVE 0.15
- ClinVar: Uncertain significance (Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.483
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)