G70R (p.Gly70Arg) variant of CNGA1 (P29973)
G70R (p.Gly70Arg) in CNGA1 (P29973) is a missense change. 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.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- ESP rs375993772
- ExAC rs375993772
- TOPMed rs375993772
- gnomAD rs375993772
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 6.50
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available