S29F (p.Ser29Phe) variant of PTPN2 (P17706)
S29F (p.Ser29Phe) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- gnomAD rs1266017550
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.43
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available