K46N (p.Lys46Asn) variant of ITGB4 (Integrin beta-4)
K46N (p.Lys46Asn) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K46N (p.Lys46Asn) variant details
- p.Lys46Asn
- gnomAD 17-75727253-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.62
- CADD 25.30
- PolyPhen-2 0.87
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available