K120E (p.Lys120Glu) variant of TNFRSF4 (P43489)
K120E (p.Lys120Glu) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
K120E (p.Lys120Glu) variant details
- p.Lys120Glu
- rs1056773421
- ClinGen CA16732688
- ClinVar RCV004137857
- gnomAD rs1056773421
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)