R28Q (p.Arg28Gln) variant of CNGA1 (P29973)
R28Q (p.Arg28Gln) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs76537883
- ClinGen CA2911392
- ClinVar RCV000398051
- ClinVar RCV001511560
- Conflicting interpretations
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.07
- CADD 24.80
- PolyPhen-2 0.38
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa)
- EBI: Benign (in dbSNP:rs76537883)
- UniProt: Benign (in dbSNP:rs76537883)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis… (PMID 7479749)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)