S60L (p.Ser60Leu) variant of PDCD1 (Programmed cell death protein 1)
S60L (p.Ser60Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
S60L (p.Ser60Leu) variant details
- p.Ser60Leu
- rs779874434
- NCI-TCGA Cosmic COSV5769
- ExAC rs779874434
- TOPMed rs779874434
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 14.70
- PolyPhen-2 0.34
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available