S29N (p.Ser29Asn) variant of RAD50 (DNA repair protein RAD50)
S29N (p.Ser29Asn) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S29N (p.Ser29Asn) variant details
- p.Ser29Asn
- TOPMed rs1274079017
- gnomAD rs1274079017
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available