D41H (p.Asp41His) variant of PAX6 (Paired box protein Pax-6)
D41H (p.Asp41His) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- rs886044222
- ClinGen CA10606497
- ClinVar RCV000298226
- Ensembl rs886044222
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.179