V20L (p.Val20Leu) variant of RHO (Rhodopsin)
V20L (p.Val20Leu) 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 0.76 / 1. The record also includes structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs370401948
- ClinGen CA354495445
- ClinVar RCV002865998
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available