P34L (p.Pro34Leu) variant of RHO (Rhodopsin)
P34L (p.Pro34Leu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs2108749194
- ClinGen CA354495719
- ClinVar RCV001360203
- Ensembl rs2108749194
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available