K16K (p.Lys16Lys) variant of SMARCB1 (Q12824)
K16K (p.Lys16Lys) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K16K (p.Lys16Lys) variant details
- p.Lys16Lys
- rs2145952051
- gnomAD 22-23787217-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 14.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.546
- Literature evidence available