P12Q (p.Pro12Gln) variant of MALT1 (Q9UDY8)
P12Q (p.Pro12Gln) in MALT1 (Q9UDY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- ExAC rs754701003
- gnomAD rs754701003
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 7.62
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the South Asian population (allele frequency 7.8e-05)
- Structural context available