V134A (p.Val134Ala) variant of HAVCR2 (Q8TDQ0)
V134A (p.Val134Ala) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
V134A (p.Val134Ala) variant details
- p.Val134Ala
- gnomAD rs773216921
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.57
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)