E125K (p.Glu125Lys) variant of RPGR (Q92834)
E125K (p.Glu125Lys) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- rs769175863
- ClinGen CA10385667
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 19.20
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00011)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)