I69T (p.Ile69Thr) variant of EYA1 (Protein phosphatase EYA1)
I69T (p.Ile69Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Fraser syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- rs371059560
- ClinGen CA4779849
- ClinVar RCV003760436
- ClinVar RCV004980992
- Uncertain significance
- Melnick-Fraser syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- MetaLR 0.45
- MetaSVM -0.30
- CADD 23.40
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Fraser syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)