K42K (p.Lys42Lys) variant of RAD50 (DNA repair protein RAD50)
K42K (p.Lys42Lys) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- rs754823399
- gnomAD 5-132557450-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available