R54K (p.Arg54Lys) variant of TNFRSF13C (Q96RJ3)
R54K (p.Arg54Lys) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
R54K (p.Arg54Lys) variant details
- p.Arg54Lys
- gnomAD 22-41926307-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.02
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Literature evidence available