M39R (p.Met39Arg) variant of RHO (Rhodopsin)
M39R (p.Met39Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 4; not provided; Retinal disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M39R (p.Met39Arg) variant details
- p.Met39Arg
- rs2084756915
- ClinGen CA354495787
- ClinVar RCV001265172
- ClinVar RCV001384459
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 4; not provided; Retinal disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.23
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 4; not provided; Retinal disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)