N113S (p.Asn113Ser) variant of PTPN2 (P17706)
N113S (p.Asn113Ser) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N113S (p.Asn113Ser) variant details
- p.Asn113Ser
- rs1241646689
- gnomAD 18-12793539-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 9.66
- Population evidence available
- Structural context available
- Literature evidence available