I54V (p.Ile54Val) variant of RHO (Rhodopsin)
I54V (p.Ile54Val) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- ExAC rs755190538
- gnomAD rs755190538
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available