M14I (p.Met14Ile) variant of NFKB1 (P19838)
M14I (p.Met14Ile) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
M14I (p.Met14Ile) variant details
- p.Met14Ile
- gnomAD 4-102529838-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available