K16E (p.Lys16Glu) variant of SMARCB1 (Q12824)
K16E (p.Lys16Glu) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- gnomAD 22-23787215-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.40
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.546
- Literature evidence available