M48V (p.Met48Val) variant of TNFRSF13B (O14836)
M48V (p.Met48Val) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
M48V (p.Met48Val) variant details
- p.Met48Val
- Ensembl rs2087595924
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.22
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available