P13L (p.Pro13Leu) variant of MALT1 (Q9UDY8)
P13L (p.Pro13Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs2054162642
- ClinGen CA402570602
- ClinVar RCV001906684
- TOPMed rs2054162642
- Uncertain significance
- Combined immunodeficiency due to MALT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.20
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Combined immunodeficiency due to MALT1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.4e-05)
- Structural context available