G29D (p.Gly29Asp) variant of SMARCB1 (Q12824)
G29D (p.Gly29Asp) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- cosmic curated COSV53155
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0668