L30V (p.Leu30Val) variant of MALT1 (Q9UDY8)
L30V (p.Leu30Val) in MALT1 (Q9UDY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to MALT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- rs2144285643
- ClinGen CA402570767
- ClinVar RCV002025392
- Ensembl rs2144285643
- Uncertain significance
- Combined immunodeficiency due to MALT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.39
- MutPred 0.28
- ClinVar: Uncertain significance (Combined immunodeficiency due to MALT1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available