V27A (p.Val27Ala) variant of TNFRSF1B (P20333)
V27A (p.Val27Ala) in TNFRSF1B (P20333) 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 0.16 / 1. The record also includes population frequency data and structural context.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- rs1420687244
- ClinGen CA338467925
- ClinVar RCV004473168
- TOPMed rs1420687244
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.13
- MetaLR 0.51
- MetaSVM -0.28
- CADD 1.18
- PolyPhen-2 0.01
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available