E7V (p.Glu7Val) variant of BRIP1 (Fanconi anemia group J protein)
E7V (p.Glu7Val) 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 0.39 / 1. The record also includes structural context.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- rs2145865897
- ClinGen CA400486057
- ClinVar RCV003405062
- Ensembl rs2145865897
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.25
- MetaLR 0.19
- MetaSVM -0.67
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available