P28L (p.Pro28Leu) variant of PDCD1 (Programmed cell death protein 1)
P28L (p.Pro28Leu) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- 1000Genomes rs56234260
- ESP rs56234260
- ExAC rs56234260
- TOPMed rs56234260
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.03
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available