R27T (p.Arg27Thr) variant of HAVCR2 (Q8TDQ0)
R27T (p.Arg27Thr) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
R27T (p.Arg27Thr) variant details
- p.Arg27Thr
- gnomAD rs1199221492
- Missense
- Variant Prioritization Score for Impact Estimate 0.0657
- REVEL 0.06
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the South Asian population (allele frequency 0.00021)