K16Q (p.Lys16Gln) variant of SMARCB1 (Q12824)
K16Q (p.Lys16Gln) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K16Q (p.Lys16Gln) variant details
- p.Lys16Gln
- Ensembl rs1928044503
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.00
- PolyPhen-2 0.33
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.546