E31K (p.Glu31Lys) variant of SMARCB1 (Q12824)
E31K (p.Glu31Lys) 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.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- cosmic curated COSV53157
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 33.00
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.533