I11V (p.Ile11Val) variant of PTPN11 (Q06124)
I11V (p.Ile11Val) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- gnomAD rs1472357430
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.42
- MetaLR 0.68
- MetaSVM 0.14
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available