T32K (p.Thr32Lys) variant of RAD50 (DNA repair protein RAD50)
T32K (p.Thr32Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T32K (p.Thr32Lys) variant details
- p.Thr32Lys
- rs1580974498
- ClinGen CA360951603
- ClinVar RCV001019541
- Ensembl rs1580974498
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 1.00
- MetaLR 0.20
- MetaSVM -0.65
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)