A95V (p.Ala95Val) variant of SMC1A (Q14683)
A95V (p.Ala95Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A95V (p.Ala95Val) variant details
- p.Ala95Val
- Ensembl rs2075726675
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.18
- MetaSVM -0.87
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available