A262G (p.Ala262Gly) variant of RPGR (Q92834)
A262G (p.Ala262Gly) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A262G (p.Ala262Gly) variant details
- p.Ala262Gly
- rs138018739
- ClinGen CA232823
- ClinVar RCV000132612
- ClinVar RCV000591311
- Benign
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 6.71
- PolyPhen-2 0.04
- SIFT 0.32
- ClinVar: Benign (RPGR-related retinopathy)
- EBI: Benign (in RP3)
- UniProt: Benign (in RP3)
- Most common in the HGDP:YI population (allele frequency 0.091)
- Structural context available
- Cited in: Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. (PMID 9399904)
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)