V78A (p.Val78Ala) variant of PAX6 (Paired box protein Pax-6)
V78A (p.Val78Ala) 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 0.97 / 1. The record also includes structural context.
V78A (p.Val78Ala) variant details
- p.Val78Ala
- rs886042622
- ClinGen CA10604487
- ClinVar RCV000284578
- Ensembl rs886042622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available