I25T (p.Ile25Thr) variant of RAD51D (O75771)
I25T (p.Ile25Thr) in RAD51D (O75771) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- rs2091797279
- ClinGen CA399092287
- ClinVar RCV004516273
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- CADD 24.60
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)