I18N (p.Ile18Asn) variant of ITGB4 (Integrin beta-4)
I18N (p.Ile18Asn) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I18N (p.Ile18Asn) variant details
- p.Ile18Asn
- gnomAD rs1269355588
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available