R51S (p.Arg51Ser) variant of KCNB1 (Q14721)
R51S (p.Arg51Ser) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- Ensembl rs2088013370
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.69
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available