Y43C (p.Tyr43Cys) variant of NFKB1 (P19838)
Y43C (p.Tyr43Cys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- rs1741460789
- gnomAD 4-102533857-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available