R53K (p.Arg53Lys) variant of NFKB1 (P19838)
R53K (p.Arg53Lys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R53K (p.Arg53Lys) variant details
- p.Arg53Lys
- gnomAD 4-102537859-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.30
- CADD 33.00
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available