A40A (p.Ala40Ala) variant of RAD50 (DNA repair protein RAD50)
A40A (p.Ala40Ala) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- gnomAD 5-132557444-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 9.62
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available