P6S (p.Pro6Ser) variant of NFKB1 (P19838)
P6S (p.Pro6Ser) in NFKB1 (P19838) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- cosmic curated COSV56958
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.01
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available