Q44K (p.Gln44Lys) variant of ZRSR2 (Q15696)
Q44K (p.Gln44Lys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- gnomAD X-15799880-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.02
- MetaLR 0.45
- MetaSVM -0.02
- CADD 15.20
- PolyPhen-2 0.05
- SIFT 0.94
- Population evidence available
- Structural context available
- Literature evidence available