P8T (p.Pro8Thr) variant of ITGB4 (Integrin beta-4)
P8T (p.Pro8Thr) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 17-75724725-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- CADD 15.60
- PolyPhen-2 0.08
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available