D378N (p.Asp378Asn) variant of RPGR (Q92834)
D378N (p.Asp378Asn) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D378N (p.Asp378Asn) variant details
- p.Asp378Asn
- rs866428513
- ClinGen CA327925034
- cosmic curated COSV58838
- ClinVar RCV001942919
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 6.09
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)