K119R (p.Lys119Arg) variant of CNGA1 (P29973)
K119R (p.Lys119Arg) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K119R (p.Lys119Arg) variant details
- p.Lys119Arg
- ExAC rs755705235
- gnomAD rs755705235
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- CADD 12.90
- PolyPhen-2 0.03
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available