L50R (p.Leu50Arg) variant of IKBKB (O14920)
L50R (p.Leu50Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
L50R (p.Leu50Arg) variant details
- p.Leu50Arg
- gnomAD 8-42272216-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0618
- CADD 2.65
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available