T26A (p.Thr26Ala) variant of RAD50 (DNA repair protein RAD50)
T26A (p.Thr26Ala) 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 Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- rs1750021820
- ClinGen CA360951438
- ClinVar RCV002400573
- ClinVar RCV006451244
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -1.02
- PolyPhen-2 0.06
- SIFT 0.25
- EVE 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)