L34F (p.Leu34Phe) variant of RAD50 (DNA repair protein RAD50)
L34F (p.Leu34Phe) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- Ensembl rs876659395
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available