S44T (p.Ser44Thr) variant of CNGA1 (P29973)
S44T (p.Ser44Thr) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S44T (p.Ser44Thr) variant details
- p.Ser44Thr
- Ensembl rs1739735236
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.08
- CADD 11.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available