L147P (p.Leu147Pro) variant of STAT6 (P42226)
L147P (p.Leu147Pro) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L147P (p.Leu147Pro) variant details
- p.Leu147Pro
- gnomAD 12-57097130-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available