Q36L (p.Gln36Leu) variant of RHO (Rhodopsin)
Q36L (p.Gln36Leu) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q36L (p.Gln36Leu) variant details
- p.Gln36Leu
- gnomAD 3-129528840-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.14
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available