C87Y (p.Cys87Tyr) variant of NFKB1 (P19838)
C87Y (p.Cys87Tyr) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C87Y (p.Cys87Tyr) variant details
- p.Cys87Tyr
- rs1387606271
- gnomAD 4-102566991-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.26
- AlphaMissense 0.28
- MetaLR 0.15
- MetaSVM -1.01
- CADD 24.00
- PolyPhen-2 0.85
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available