P28S (p.Pro28Ser) variant of NFKB1 (P19838)
P28S (p.Pro28Ser) in NFKB1 (P19838) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- cosmic curated COSV10505
- TOPMed rs1485949241
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.06
- CADD 6.72
- PolyPhen-2 0.00
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available