S39T (p.Ser39Thr) variant of CNGA1 (P29973)
S39T (p.Ser39Thr) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S39T (p.Ser39Thr) variant details
- p.Ser39Thr
- gnomAD rs1340398264
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.08
- CADD 23.40
- PolyPhen-2 0.93
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available