P81S (p.Pro81Ser) variant of SIX1 (Homeobox protein SIX1)
P81S (p.Pro81Ser) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- ExAC rs759405851
- TOPMed rs759405851
- gnomAD rs759405851
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available