V43M (p.Val43Met) variant of NFKB2 (Q00653)
V43M (p.Val43Met) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- gnomAD 10-102396472-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- MetaLR 0.20
- MetaSVM -0.70
- CADD 27.80
- PolyPhen-2 0.91
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available