S37F (p.Ser37Phe) variant of CNGA1 (P29973)
S37F (p.Ser37Phe) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- TOPMed rs1300146808
- gnomAD rs1300146808
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.35
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available