A20V (p.Ala20Val) variant of TNFRSF1B (P20333)
A20V (p.Ala20Val) in TNFRSF1B (P20333) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Meniere disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- TOPMed rs1638407667
- Uncertain significance
- Meniere disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- MetaLR 0.59
- MetaSVM -0.31
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Meniere disease)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available