L12V (p.Leu12Val) variant of TNFRSF9 (Q07011)
L12V (p.Leu12Val) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- cosmic curated COSV66349
- 1000Genomes rs201133913
- ExAC rs201133913
- TOPMed rs201133913
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0851
- REVEL 0.05
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available