N125K (p.Asn125Lys) variant of IL12B (Interleukin-12 subunit beta)
N125K (p.Asn125Lys) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N125K (p.Asn125Lys) variant details
- p.Asn125Lys
- gnomAD 5-159322501-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.03
- CADD 16.80
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available