A73S (p.Ala73Ser) variant of CARD11 (Q9BXL7)
A73S (p.Ala73Ser) in CARD11 (Q9BXL7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A73S (p.Ala73Ser) variant details
- p.Ala73Ser
- ExAC rs772688973
- gnomAD rs772688973
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available