K79R (p.Lys79Arg) variant of CHRNA4 (P43681)
K79R (p.Lys79Arg) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
K79R (p.Lys79Arg) variant details
- p.Lys79Arg
- ExAC rs768877090
- gnomAD rs768877090
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.64
- CADD 24.30
- PolyPhen-2 0.57
- SIFT 0.40
- Most common in the South Asian population (allele frequency 0.00012)