K134E (p.Lys134Glu) variant of CNGA1 (P29973)
K134E (p.Lys134Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K134E (p.Lys134Glu) variant details
- p.Lys134Glu
- ExAC rs775436707
- gnomAD rs775436707
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available