L42F (p.Leu42Phe) variant of PDCD1 (Programmed cell death protein 1)
L42F (p.Leu42Phe) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- Ensembl rs2124861493
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.18
- MetaLR 0.47
- MetaSVM -0.60
- CADD 20.20
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available