H54Q (p.His54Gln) variant of PADI4 (Q9UM07)
H54Q (p.His54Gln) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H54Q (p.His54Gln) variant details
- p.His54Gln
- gnomAD 1-17331038-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.04
- CADD 7.20
- PolyPhen-2 0.65
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available