D252V (p.Asp252Val) variant of SMC1A (Q14683)
D252V (p.Asp252Val) in SMC1A (Q14683) 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 and structural context.
D252V (p.Asp252Val) variant details
- p.Asp252Val
- gnomAD rs1556890763
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.33
- ESM-1b 0.82
- AlphaMissense 0.35
- MetaLR 0.02
- MetaSVM -1.03
- CADD 20.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00012)
- Structural context available