V49L (p.Val49Leu) variant of HAVCR2 (Q8TDQ0)
V49L (p.Val49Leu) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- ExAC rs768093433
- TOPMed rs768093433
- gnomAD rs768093433
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.07
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)