M1V (p.Met1Val) variant of NFKB1 (P19838)
M1V (p.Met1Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1223203083
- ClinGen CA357957196
- ClinVar RCV003322102
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.27
- MetaLR 0.21
- MetaSVM -0.66
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available