D26V (p.Asp26Val) variant of PTPN11 (Q06124)
D26V (p.Asp26Val) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D26V (p.Asp26Val) variant details
- p.Asp26Val
- gnomAD rs1247363600
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.77
- MetaLR 0.65
- MetaSVM 0.42
- CADD 23.30
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available