L13Q (p.Leu13Gln) variant of HAVCR2 (Q8TDQ0)
L13Q (p.Leu13Gln) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- ExAC rs749841722
- TOPMed rs749841722
- gnomAD rs749841722
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.21
- CADD 24.50
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)