I6V (p.Ile6Val) variant of CNGA1 (P29973)
I6V (p.Ile6Val) in CNGA1 (P29973) 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 0.14 / 1. The record also includes population frequency data and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs534317245
- ClinGen CA2911404
- ClinVar RCV001219951
- 1000Genomes rs534317245
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.04
- CADD 6.82
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available