T55A (p.Thr55Ala) variant of EYA1 (Protein phosphatase EYA1)
T55A (p.Thr55Ala) 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 Branchiootorenal syndrome 1; Branchiootic syndrome 1; Otofaciocervical syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- rs139194909
- ClinGen CA4779872
- ClinVar RCV001756301
- ClinVar RCV003771907
- Conflicting interpretations
- Branchiootorenal syndrome 1; Branchiootic syndrome 1; Otofaciocervical syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.92
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Branchiootorenal syndrome 1; Branchiootic syndrome 1; Otofacioce)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)