V30I (p.Val30Ile) variant of NFKB1 (P19838)
V30I (p.Val30Ile) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- rs899498254
- gnomAD 4-102529884-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.04
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available