C54S (p.Cys54Ser) variant of PDCD1 (Programmed cell death protein 1)
C54S (p.Cys54Ser) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C54S (p.Cys54Ser) variant details
- p.Cys54Ser
- Ensembl rs2124861238
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.55
- MetaLR 0.43
- MetaSVM -0.05
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available