T13A (p.Thr13Ala) variant of RAD51D (O75771)
T13A (p.Thr13Ala) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T13A (p.Thr13Ala) variant details
- p.Thr13Ala
- rs2142480616
- ClinGen CA399092487
- ClinVar RCV002363949
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- CADD 20.80
- PolyPhen-2 0.16
- SIFT 0.05
- 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)