Q18Q (p.Gln18Gln) variant of SMARCB1 (Q12824)
Q18Q (p.Gln18Gln) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18Q (p.Gln18Gln) variant details
- p.Gln18Gln
- rs1220062951
- gnomAD 22-23787223-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.79
- MetaLR 0.69
- MetaSVM 0.28
- CADD 13.40
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.062
- Literature evidence available