W6L (p.Trp6Leu) variant of PTPN11 (Q06124)
W6L (p.Trp6Leu) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W6L (p.Trp6Leu) variant details
- p.Trp6Leu
- gnomAD 12-112446278-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available