V51I (p.Val51Ile) variant of PTPN11 (Q06124)
V51I (p.Val51Ile) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- Ensembl rs2135861898
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.55
- MetaLR 0.77
- MetaSVM 0.50
- CADD 24.40
- PolyPhen-2 0.68
- SIFT 0.05
- Population evidence available
- Structural context available