L17P (p.Leu17Pro) variant of HAVCR2 (Q8TDQ0)
L17P (p.Leu17Pro) 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.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- ExAC rs769374342
- gnomAD rs769374342
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)