P92S (p.Pro92Ser) variant of NFKB1 (P19838)
P92S (p.Pro92Ser) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P92S (p.Pro92Ser) variant details
- p.Pro92Ser
- rs751657227
- gnomAD 4-102567005-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.18
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available