N38Q (p.Asn38Gln) variant of RAD50 (DNA repair protein RAD50)
N38Q (p.Asn38Gln) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N38Q (p.Asn38Gln) variant details
- p.Asn38Gln
- gnomAD 5-132557434-C-CAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available