A23P (p.Ala23Pro) variant of MALT1 (Q9UDY8)
A23P (p.Ala23Pro) in MALT1 (Q9UDY8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- TOPMed rs994799429
- gnomAD rs994799429
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 4.66
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available