P7L (p.Pro7Leu) variant of RHO (Rhodopsin)
P7L (p.Pro7Leu) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD rs1312492810
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.35
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available