T55M (p.Thr55Met) variant of EYA1 (Protein phosphatase EYA1)
T55M (p.Thr55Met) 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; not provided; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T55M (p.Thr55Met) variant details
- p.Thr55Met
- rs201434219
- ClinGen CA182790
- ClinVar RCV000155446
- ClinVar RCV000392984
- Conflicting interpretations
- not specified; not provided; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.34
- MetaLR 0.30
- MetaSVM -0.46
- CADD 26.30
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Branchiootic syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)