L69R (p.Leu69Arg) variant of NFKB1 (P19838)
L69R (p.Leu69Arg) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L69R (p.Leu69Arg) variant details
- p.Leu69Arg
- gnomAD 4-102537907-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- CADD 27.70
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available