V63R (p.Val63Arg) variant of RHO (Rhodopsin)
V63R (p.Val63Arg) in RHO (Rhodopsin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V63R (p.Val63Arg) variant details
- p.Val63Arg
- rs2084757540
- gnomAD 3-129528917-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available