R12C (p.Arg12Cys) variant of EYA1 (Protein phosphatase EYA1)
R12C (p.Arg12Cys) 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 Inborn genetic diseases; Branchiootic syndrome 1; Branchiootorenal syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs530921368
- ClinGen CA179474515
- ClinVar RCV001914199
- ClinVar RCV002469431
- Conflicting interpretations
- Inborn genetic diseases; Branchiootic syndrome 1; Branchiootorenal syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.52
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Branchiootic syndrome 1; Branchiootoren)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)