M10I (p.Met10Ile) variant of STAT6 (P42226)
M10I (p.Met10Ile) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- TOPMed rs1046376263
- gnomAD rs1046376263
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available