T13I (p.Thr13Ile) variant of RAD51D (O75771)
T13I (p.Thr13Ile) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T13I (p.Thr13Ile) variant details
- p.Thr13Ile
- rs1064795830
- ClinGen CA16620394
- ClinVar RCV000486273
- ClinVar RCV000546552
- Uncertain significance
- not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- CADD 24.70
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Breast-ovarian cancer, familial, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)