N345D (p.Asn345Asp) variant of RPGR (Q92834)
N345D (p.Asn345Asp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
N345D (p.Asn345Asp) variant details
- p.Asn345Asp
- rs41305223
- ClinGen CA226338
- cosmic curated COSV58834
- ClinVar RCV000085039
- Benign
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0569
- CADD 0.83
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Benign (RPGR-related retinopathy)
- EBI: Benign (in dbSNP:rs41305223)
- UniProt: Benign (in dbSNP:rs41305223)
- Most common in the HGDP:PATHAN population (allele frequency 0.034)
- Structural context available
- Cited in: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (PMID 10937588)
- Cited in: X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. (PMID 11857109)