V63I (p.Val63Ile) variant of RHO (Rhodopsin)
V63I (p.Val63Ile) 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 0.16 / 1. The record also includes population frequency data and structural context.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- rs146936681
- ClinGen CA2607082
- ClinVar RCV001364807
- 1000Genomes rs146936681
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available