V121A (p.Val121Ala) variant of PTPN2 (P17706)
V121A (p.Val121Ala) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V121A (p.Val121Ala) variant details
- p.Val121Ala
- gnomAD rs1290556737
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.46
- CADD 26.80
- PolyPhen-2 0.59
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available