G35V (p.Gly35Val) variant of BRIP1 (Fanconi anemia group J protein)
G35V (p.Gly35Val) 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 0.51 / 1. The record also includes population frequency data and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- rs876659168
- ClinGen CA400485864
- ClinVar RCV000780049
- gnomAD rs876659168
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.31
- AlphaMissense 0.99
- MetaLR 0.37
- MetaSVM -0.37
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available