K31E (p.Lys31Glu) variant of ITGB4 (Integrin beta-4)
K31E (p.Lys31Glu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- TOPMed rs1455924041
- gnomAD rs1455924041
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.26
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.96
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available