T26S (p.Thr26Ser) variant of RAD50 (DNA repair protein RAD50)
T26S (p.Thr26Ser) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nijmegen breakage syndrome-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- rs2149830142
- ClinGen CA360951452
- ClinVar RCV003463430
- Uncertain significance
- Nijmegen breakage syndrome-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.16
- MetaLR 0.04
- MetaSVM -1.11
- PolyPhen-2 0.54
- SIFT 0.07
- EVE 0.55
- ClinVar: Uncertain significance (Nijmegen breakage syndrome-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available