H96Q (p.His96Gln) variant of TNFRSF13B (O14836)
H96Q (p.His96Gln) in TNFRSF13B (O14836) 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 0.61 / 1. The record also includes population frequency data.
H96Q (p.His96Gln) variant details
- p.His96Gln
- ExAC rs778997868
- gnomAD rs778997868
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.73
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)