S27R (p.Ser27Arg) variant of PTPRC (P08575)
S27R (p.Ser27Arg) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD 1-198692354-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.054
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available