V20I (p.Val20Ile) variant of RHO (Rhodopsin)
V20I (p.Val20Ile) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs370401948
- ClinGen CA2607050
- ClinVar RCV001073770
- ClinVar RCV001862809
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.67
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 1.07
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available