A10T (p.Ala10Thr) variant of MALT1 (Q9UDY8)
A10T (p.Ala10Thr) 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 0.49 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs1486051104
- ClinGen CA402570568
- ClinVar RCV001975576
- TOPMed rs1486051104
- Uncertain significance
- Combined immunodeficiency due to MALT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Combined immunodeficiency due to MALT1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available