V30I (p.Val30Ile) variant of HAVCR2 (Q8TDQ0)
V30I (p.Val30Ile) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- Ensembl rs766347561
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.14
- CADD 13.60
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)