S27I (p.Ser27Ile) variant of PTPRC (P08575)
S27I (p.Ser27Ile) 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 and structural context.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- ExAC rs763020424
- gnomAD rs763020424
- Missense
- Variant Prioritization Score for Impact Estimate 0.0472
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the South Asian population (allele frequency 4.4e-05)
- Structural context available