Y109H (p.Tyr109His) variant of EYA1 (Protein phosphatase EYA1)
Y109H (p.Tyr109His) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; EYA1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y109H (p.Tyr109His) variant details
- p.Tyr109His
- rs141779040
- ClinGen CA4779810
- ClinVar RCV000294529
- ClinVar RCV000335524
- Conflicting interpretations
- not specified; EYA1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.68
- MetaLR 0.77
- MetaSVM 0.64
- CADD 26.50
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; EYA1-related disorder; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)