M25T (p.Met25Thr) variant of CUL3 (Cullin-3)
M25T (p.Met25Thr) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
M25T (p.Met25Thr) variant details
- p.Met25Thr
- rs1382194775
- ClinGen CA351131040
- ClinVar RCV001847461
- gnomAD rs1382194775
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.99
- MetaLR 0.28
- MetaSVM -0.45
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available