F39L (p.Phe39Leu) variant of HAVCR2 (Q8TDQ0)
F39L (p.Phe39Leu) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- rs41283181
- ClinGen CA3532002
- ClinVar RCV004319312
- ESP rs41283181
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.03
- CADD 2.66
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)