A219V (p.Ala219Val) variant of SMC1A (Q14683)
A219V (p.Ala219Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A219V (p.Ala219Val) variant details
- p.Ala219Val
- Ensembl rs2075719793
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.52
- ESM-1b 0.17
- AlphaMissense 0.25
- MetaLR 0.20
- MetaSVM -0.83
- CADD 22.60
- Population evidence available
- Structural context available