I46V (p.Ile46Val) variant of RAD50 (DNA repair protein RAD50)
I46V (p.Ile46Val) 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 Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- rs1750077851
- ClinGen CA360953175
- ClinVar RCV003239298
- Ensembl rs1750077851
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)