H30R (p.His30Arg) variant of PTPN2 (P17706)
H30R (p.His30Arg) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- gnomAD rs917217934
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available