V61I (p.Val61Ile) variant of RHO (Rhodopsin)
V61I (p.Val61Ile) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
V61I (p.Val61Ile) variant details
- p.Val61Ile
- ExAC rs776504351
- TOPMed rs776504351
- gnomAD rs776504351
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.49
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available