Y81C (p.Tyr81Cys) variant of NFKB1 (P19838)
Y81C (p.Tyr81Cys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y81C (p.Tyr81Cys) variant details
- p.Tyr81Cys
- gnomAD 4-102537943-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.39
- CADD 26.80
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available