Q5H (p.Gln5His) variant of PDCD1 (Programmed cell death protein 1)
Q5H (p.Gln5His) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- TOPMed rs1448793282
- gnomAD rs1448793282
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.97
- CADD 12.30
- PolyPhen-2 0.09
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 5.1e-05)
- Structural context available