P50T (p.Pro50Thr) variant of HAVCR2 (Q8TDQ0)
P50T (p.Pro50Thr) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- gnomAD rs1257402601
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 22.00
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)