F350V (p.Phe350Val) variant of SMC1A (Q14683)
F350V (p.Phe350Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
F350V (p.Phe350Val) variant details
- p.Phe350Val
- gnomAD rs1556890589
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 0.95
- Structural context available