P5L (p.Pro5Leu) variant of SIX1 (Homeobox protein SIX1)
P5L (p.Pro5Leu) 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; Branchiootic syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- ExAC rs771057416
- TOPMed rs771057416
- gnomAD rs771057416
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 23; Branchiootic syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 31.00
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 23; Branchiootic sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.28