S72N (p.Ser72Asn) variant of PTPN2 (P17706)
S72N (p.Ser72Asn) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S72N (p.Ser72Asn) variant details
- p.Ser72Asn
- gnomAD rs1455114748
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.33
- CADD 22.10
- PolyPhen-2 0.29
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available