A15E (p.Ala15Glu) variant of ITGB4 (Integrin beta-4)
A15E (p.Ala15Glu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 17-75724747-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.21
- CADD 12.40
- PolyPhen-2 0.34
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available