S14P (p.Ser14Pro) variant of MALT1 (Q9UDY8)
S14P (p.Ser14Pro) in MALT1 (Q9UDY8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- rs1282488062
- gnomAD 18-58671675-TGCCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available