G23V (p.Gly23Val) variant of SMARCB1 (Q12824)
G23V (p.Gly23Val) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 22-23787237-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.147
- Literature evidence available