V49M (p.Val49Met) variant of HAVCR2 (Q8TDQ0)
V49M (p.Val49Met) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs768093433
- ClinGen CA361955425
- ClinVar RCV003312637
- ExAC rs768093433
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.07
- CADD 21.70
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)