A5E (p.Ala5Glu) variant of SMARCB1 (Q12824)
A5E (p.Ala5Glu) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 22-23787183-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 25.00
- PolyPhen-2 0.74
- SIFT 0.09
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0955
- Literature evidence available