T22A (p.Thr22Ala) variant of NFKB1 (P19838)
T22A (p.Thr22Ala) in NFKB1 (P19838) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- rs2476157260
- ClinGen CA357957357
- ClinVar RCV003042758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0653
- REVEL 0.03
- CADD 5.71
- PolyPhen-2 0.01
- SIFT 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available