A36T (p.Ala36Thr) variant of NFKB1 (P19838)
A36T (p.Ala36Thr) 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 0.14 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs2476157704
- ClinGen CA357957453
- ClinVar RCV002731617
- NCI-TCGA Cosmic COSV5695
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available