G88C (p.Gly88Cys) variant of PTPN2 (P17706)
G88C (p.Gly88Cys) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G88C (p.Gly88Cys) variant details
- p.Gly88Cys
- gnomAD rs2042649573
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available