F53L (p.Phe53Leu) variant of SMC3 (Q9UQE7)
F53L (p.Phe53Leu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- gnomAD 10-110575362-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available