L25P (p.Leu25Pro) variant of TNFRSF13B (O14836)
L25P (p.Leu25Pro) 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 0.21 / 1. The record also includes population frequency data and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- ExAC rs534147180
- gnomAD rs534147180
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.24
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available