L26V (p.Leu26Val) variant of BRIP1 (Fanconi anemia group J protein)
L26V (p.Leu26Val) 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 structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- rs2145863923
- ClinGen CA400485932
- ClinVar RCV003494218
- Ensembl rs2145863923
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 0.21
- MetaLR 0.48
- MetaSVM -0.11
- PolyPhen-2 0.99
- SIFT 0.06
- EVE 0.61
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available