L62F (p.Leu62Phe) variant of SMC3 (Q9UQE7)
L62F (p.Leu62Phe) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L62F (p.Leu62Phe) variant details
- p.Leu62Phe
- gnomAD 10-110575391-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.24
- ESM-1b 0.20
- AlphaMissense 0.77
- CADD 24.00
- PolyPhen-2 0.67
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available