Q9K (p.Gln9Lys) variant of SMC3 (Q9UQE7)
Q9K (p.Gln9Lys) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q9K (p.Gln9Lys) variant details
- p.Gln9Lys
- gnomAD 10-110568947-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 24.00
- PolyPhen-2 0.35
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available