G51A (p.Gly51Ala) variant of RHO (Rhodopsin)
G51A (p.Gly51Ala) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Congenital stationary night blindness autosomal dominant 1; not provided; Retini. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- rs149079952
- ClinGen CA2607070
- ClinVar RCV000279557
- ClinVar RCV000336890
- Benign/Likely benign
- Congenital stationary night blindness autosomal dominant 1; not provided; Retini
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Benign/Likely benign (Congenital stationary night blindness autosomal dominant 1; not)
- EBI: Pathogenic (in dbSNP:rs149079952)
- UniProt: Pathogenic (in dbSNP:rs149079952)
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Cited in: Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and… (PMID 8317502)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)