S27A (p.Ser27Ala) variant of PTPRC (P08575)
S27A (p.Ser27Ala) in PTPRC (P08575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S27A (p.Ser27Ala) variant details
- p.Ser27Ala
- gnomAD 1-198692349-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available