V43M (p.Val43Met) variant of PDCD1 (Programmed cell death protein 1)
V43M (p.Val43Met) in PDCD1 (Programmed cell death protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs368829632
- ESP rs368829632
- ExAC rs368829632
- TOPMed rs368829632
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0878
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -1.04
- CADD 0.05
- PolyPhen-2 0.02
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available