P246L (p.Pro246Leu) variant of EYS (Protein eyes shut homolog)
P246L (p.Pro246Leu) in EYS (Protein eyes shut homolog) 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 0.18 / 1. The record also includes population frequency data.
P246L (p.Pro246Leu) variant details
- p.Pro246Leu
- rs2533027149
- ClinGen CA364789240
- ClinVar RCV003070518
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.23
- CADD 9.00
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available