K127E (p.Lys127Glu) variant of CNGA1 (P29973)
K127E (p.Lys127Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K127E (p.Lys127Glu) variant details
- p.Lys127Glu
- gnomAD rs1197786545
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.09
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available