G121V (p.Gly121Val) variant of RHO (Rhodopsin)
G121V (p.Gly121Val) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 4; Congenital stationary night blindness autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G121V (p.Gly121Val) variant details
- p.Gly121Val
- rs2084774644
- ClinGen CA354497833
- ClinVar RCV001265183
- ClinVar RCV001265184
- Likely pathogenic
- Retinitis pigmentosa 4; Congenital stationary night blindness autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 4; Congenital stationary night blindness au)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)