K27R (p.Lys27Arg) variant of KCNB1 (Q14721)
K27R (p.Lys27Arg) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- rs1051739254
- gnomAD 20-49299355-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 7.23
- Most common in the African/African-American population (allele frequency 0.00017)
- Literature evidence available