D22E (p.Asp22Glu) variant of SMARCB1 (Q12824)
D22E (p.Asp22Glu) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- gnomAD 22-23787235-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.454
- Literature evidence available