L49I (p.Leu49Ile) variant of RAD50 (DNA repair protein RAD50)
L49I (p.Leu49Ile) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L49I (p.Leu49Ile) variant details
- p.Leu49Ile
- gnomAD 5-132559299-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available