T36I (p.Thr36Ile) variant of EYA1 (Protein phosphatase EYA1)
T36I (p.Thr36Ile) 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; Otofaciocervical syndrome 1; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- rs727503048
- ClinGen CA176085
- ClinVar RCV000150677
- ClinVar RCV001577879
- Conflicting interpretations
- not specified; Otofaciocervical syndrome 1; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.35
- MetaLR 0.23
- MetaSVM -0.75
- CADD 24.40
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Otofaciocervical syndrome 1; Branchiootic syndrom)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)