L31P (p.Leu31Pro) variant of RAD50 (DNA repair protein RAD50)
L31P (p.Leu31Pro) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD 5-132557410-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available