S30P (p.Ser30Pro) variant of SMARCB1 (Q12824)
S30P (p.Ser30Pro) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 22-23787257-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 33.00
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0233
- Literature evidence available