P8S (p.Pro8Ser) variant of ITGB4 (Integrin beta-4)
P8S (p.Pro8Ser) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD 17-75724725-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available