E41K (p.Glu41Lys) variant of EYA1 (Protein phosphatase EYA1)
E41K (p.Glu41Lys) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Melnick-Fraser syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- rs561111097
- ClinGen CA4779923
- NCI-TCGA Cosmic COSV5817
- cosmic curated COSV58171
- Likely benign
- Melnick-Fraser syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.48
- MetaLR 0.58
- MetaSVM -0.12
- CADD 24.90
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Likely benign (Melnick-Fraser syndrome; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles… (PMID 23508780)