P44L (p.Pro44Leu) variant of PTPRC (P08575)
P44L (p.Pro44Leu) in PTPRC (P08575) 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 0.07 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- NCI-TCGA Cosmic COSV1007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0697
- REVEL 0.06
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available