V21L (p.Val21Leu) variant of PTPRC (P08575)
V21L (p.Val21Leu) 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 0.10 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- rs1288480100
- NCI-TCGA Cosmic COSV6142
- cosmic curated COSV61421
- gnomAD rs1288480100
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.08
- CADD 9.94
- PolyPhen-2 0.18
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available