I10T (p.Ile10Thr) variant of BRIP1 (Fanconi anemia group J protein)
I10T (p.Ile10Thr) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
I10T (p.Ile10Thr) variant details
- p.Ile10Thr
- rs786203418
- ClinGen CA196556
- ClinVar RCV000166716
- ClinVar RCV001052914
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)