M16T (p.Met16Thr) variant of RAD51D (O75771)
M16T (p.Met16Thr) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
M16T (p.Met16Thr) variant details
- p.Met16Thr
- rs797044943
- ClinGen CA204858
- cosmic curated COSV50101
- ClinVar RCV001371205
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)