G26C (p.Gly26Cys) variant of EYA1 (Protein phosphatase EYA1)
G26C (p.Gly26Cys) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G26C (p.Gly26Cys) variant details
- p.Gly26Cys
- rs199664417
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- NCI-TCGA Cosmic COSV5817
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.39
- MetaLR 0.54
- MetaSVM 0.24
- CADD 27.50
- PolyPhen-2 0.73
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available