L49L (p.Leu49Leu) variant of RAD50 (DNA repair protein RAD50)
L49L (p.Leu49Leu) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs1457136759
- gnomAD 5-132559301-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.73
- Population evidence available
- Structural context available
- Literature evidence available