K126Q (p.Lys126Gln) variant of CNGA1 (P29973)
K126Q (p.Lys126Gln) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K126Q (p.Lys126Gln) variant details
- p.Lys126Gln
- ExAC rs761590177
- TOPMed rs761590177
- gnomAD rs761590177
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.46
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available