P53L (p.Pro53Leu) variant of RHO (Rhodopsin)
P53L (p.Pro53Leu) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- gnomAD 3-129528891-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available