A249V (p.Ala249Val) variant of RPGR (Q92834)
A249V (p.Ala249Val) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A249V (p.Ala249Val) variant details
- p.Ala249Val
- rs1251721610
- ClinGen CA412742584
- cosmic curated COSV10014
- ClinVar RCV001036209
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)