K128E (p.Lys128Glu) variant of CNGA1 (P29973)
K128E (p.Lys128Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K128E (p.Lys128Glu) variant details
- p.Lys128Glu
- gnomAD rs1275057708
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.08
- CADD 21.90
- PolyPhen-2 0.38
- SIFT 0.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available