H41D (p.His41Asp) variant of BRIP1 (Fanconi anemia group J protein)
H41D (p.His41Asp) 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 0.50 / 1. The record also includes structural context.
H41D (p.His41Asp) variant details
- p.His41Asp
- rs770930270
- ClinGen CA400485827
- ClinVar RCV001193530
- ExAC rs770930270
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.70
- MetaLR 0.35
- MetaSVM -0.42
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.72
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available