K42K (p.Lys42Lys) variant of GNAT1 (P11488)
K42K (p.Lys42Lys) in GNAT1 (P11488) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- rs776367777
- gnomAD 3-50193152-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 11.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available