P51S (p.Pro51Ser) variant of PTPRC (P08575)
P51S (p.Pro51Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- rs746435286
- ExAC rs746435286
- gnomAD rs746435286
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available