Q184H (p.Gln184His) variant of RPGR (Q92834)
Q184H (p.Gln184His) in RPGR (Q92834) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q184H (p.Gln184His) variant details
- p.Gln184His
- rs5963403
- ClinGen CA10385632
- ClinVar RCV000251248
- ClinVar RCV000459428
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 0.86
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Benign (in dbSNP:rs5963403)
- UniProt: Benign (in dbSNP:rs5963403)
- Most common in the HGDP:BIAKA population (allele frequency 0.48)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)