E29D (p.Glu29Asp) variant of HAVCR2 (Q8TDQ0)
E29D (p.Glu29Asp) 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.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- TOPMed rs1158869244
- Missense
- Variant Prioritization Score for Impact Estimate 0.0689
- REVEL 0.04
- CADD 2.34
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)