V11M (p.Val11Met) variant of RHO (Rhodopsin)
V11M (p.Val11Met) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- rs1251088622
- ClinGen CA354495245
- NCI-TCGA Cosmic COSV5621
- NCI-TCGA Cosmic COSV9996
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.78
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available