P56L (p.Pro56Leu) variant of CNGA1 (P29973)
P56L (p.Pro56Leu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- TOPMed rs1291858210
- gnomAD rs1291858210
- Missense
- Variant Prioritization Score for Impact Estimate 0.0312
- REVEL 0.01
- CADD 1.05
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available