A13V (p.Ala13Val) variant of RPGR (Q92834)
A13V (p.Ala13Val) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs1435213397
- ClinGen CA412746168
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58839
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)