S21G (p.Ser21Gly) variant of ITGB4 (Integrin beta-4)
S21G (p.Ser21Gly) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- gnomAD 17-75724764-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available