K120Q (p.Lys120Gln) variant of TNFRSF4 (P43489)
K120Q (p.Lys120Gln) in TNFRSF4 (P43489) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
K120Q (p.Lys120Gln) variant details
- p.Lys120Gln
- gnomAD rs1056773421
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)