P45Q (p.Pro45Gln) variant of HAVCR2 (Q8TDQ0)
P45Q (p.Pro45Gln) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
P45Q (p.Pro45Gln) variant details
- p.Pro45Gln
- NCI-TCGA TCGA novel
- TOPMed rs1757260954
- gnomAD rs1757260954
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.15
- CADD 15.80
- PolyPhen-2 0.60
- SIFT 0.12
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)