E46K (p.Glu46Lys) variant of PDCD1 (Programmed cell death protein 1)
E46K (p.Glu46Lys) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- TOPMed rs1429395114
- gnomAD rs1429395114
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.47
- MetaLR 0.46
- MetaSVM -0.49
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available