Y43F (p.Tyr43Phe) variant of NFKB1 (P19838)
Y43F (p.Tyr43Phe) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y43F (p.Tyr43Phe) variant details
- p.Tyr43Phe
- rs1741460789
- gnomAD 4-102533857-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.06
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available