I10L (p.Ile10Leu) variant of BRIP1 (Fanconi anemia group J protein)
I10L (p.Ile10Leu) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
I10L (p.Ile10Leu) variant details
- p.Ile10Leu
- rs945685514
- ClinGen CA400486041
- ClinVar RCV003322372
- Ensembl rs945685514
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.32
- MetaLR 0.47
- MetaSVM -0.16
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available