L146I (p.Leu146Ile) variant of STAT6 (P42226)
L146I (p.Leu146Ile) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L146I (p.Leu146Ile) variant details
- p.Leu146Ile
- gnomAD rs1387979430
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available