P25S (p.Pro25Ser) variant of MALT1 (Q9UDY8)
P25S (p.Pro25Ser) in MALT1 (Q9UDY8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- gnomAD rs1437258417
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 7.30
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available